{"id":27860,"date":"2026-05-05T12:18:49","date_gmt":"2026-05-05T12:18:49","guid":{"rendered":"https:\/\/www.europesays.com\/ai\/27860\/"},"modified":"2026-05-05T12:18:49","modified_gmt":"2026-05-05T12:18:49","slug":"advancing-regulatory-variant-effect-prediction-with-alphagenome","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/ai\/27860\/","title":{"rendered":"Advancing regulatory variant effect prediction with AlphaGenome"},"content":{"rendered":"<p class=\"c-article-references__text\" id=\"ref-CR1\">Avsec, \u017d. et al. Effective gene expression prediction from sequence by integrating long-range interactions. Nat. Methods 18, 1196\u20131203 (2021).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41592-021-01252-x\" data-track-item_id=\"10.1038\/s41592-021-01252-x\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41592-021-01252-x\" aria-label=\"Article reference 1\" data-doi=\"10.1038\/s41592-021-01252-x\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3MXitFOltLbP\" aria-label=\"CAS reference 1\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=34608324\" aria-label=\"PubMed reference 1\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8490152\" aria-label=\"PubMed Central reference 1\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 1\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Effective%20gene%20expression%20prediction%20from%20sequence%20by%20integrating%20long-range%20interactions&amp;journal=Nat.%20Methods&amp;doi=10.1038%2Fs41592-021-01252-x&amp;volume=18&amp;pages=1196-1203&amp;publication_year=2021&amp;author=Avsec%2C%C5%BD\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR2\">Linder, J., Srivastava, D. &amp; Yuan, H. Predicting RNA-seq coverage from DNA sequence as a unifying model of gene regulation. Nat. Genet. 57, 949\u2013961 (2025).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41588-024-02053-6\" data-track-item_id=\"10.1038\/s41588-024-02053-6\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41588-024-02053-6\" aria-label=\"Article reference 2\" data-doi=\"10.1038\/s41588-024-02053-6\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2MXhtVWrsLs%3D\" aria-label=\"CAS reference 2\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=39779956\" aria-label=\"PubMed reference 2\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC11985352\" aria-label=\"PubMed Central reference 2\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 2\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Predicting%20RNA-seq%20coverage%20from%20DNA%20sequence%20as%20a%20unifying%20model%20of%20gene%20regulation&amp;journal=Nat.%20Genet.&amp;doi=10.1038%2Fs41588-024-02053-6&amp;volume=57&amp;pages=949-961&amp;publication_year=2025&amp;author=Linder%2CJ&amp;author=Srivastava%2CD&amp;author=Yuan%2CH\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR3\">Zhou, J. Sequence-based modeling of three-dimensional genome architecture from kilobase to chromosome scale. Nat. Genet. 54, 725\u2013734 (2022).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41588-022-01065-4\" data-track-item_id=\"10.1038\/s41588-022-01065-4\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41588-022-01065-4\" aria-label=\"Article reference 3\" data-doi=\"10.1038\/s41588-022-01065-4\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB38Xht1ynsbvK\" aria-label=\"CAS reference 3\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=35551308\" aria-label=\"PubMed reference 3\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC9186125\" aria-label=\"PubMed Central reference 3\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 3\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Sequence-based%20modeling%20of%20three-dimensional%20genome%20architecture%20from%20kilobase%20to%20chromosome%20scale&amp;journal=Nat.%20Genet.&amp;doi=10.1038%2Fs41588-022-01065-4&amp;volume=54&amp;pages=725-734&amp;publication_year=2022&amp;author=Zhou%2CJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR4\">Jaganathan, K. et al. Predicting splicing from primary sequence with deep learning. Cell 176, 535\u2013548 (2019).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1016\/j.cell.2018.12.015\" data-track-item_id=\"10.1016\/j.cell.2018.12.015\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1016%2Fj.cell.2018.12.015\" aria-label=\"Article reference 4\" data-doi=\"10.1016\/j.cell.2018.12.015\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"ads reference\" data-track-action=\"ads reference\" href=\"http:\/\/adsabs.harvard.edu\/cgi-bin\/nph-data_query?link_type=ABSTRACT&amp;bibcode=2019Cell..176..535J\" aria-label=\"ADS reference 4\" target=\"_blank\">ADS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC1MXhsVarsbk%3D\" aria-label=\"CAS reference 4\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=30661751\" aria-label=\"PubMed reference 4\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 4\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Predicting%20splicing%20from%20primary%20sequence%20with%20deep%20learning&amp;journal=Cell&amp;doi=10.1016%2Fj.cell.2018.12.015&amp;volume=176&amp;pages=535-548&amp;publication_year=2019&amp;author=Jaganathan%2CK\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR5\">Kelley, D. R., Snoek, J. &amp; Rinn, J. L. Basset: learning the regulatory code of the accessible genome with deep convolutional neural networks. Genome Res. 26, 990\u2013999 (2016).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1101\/gr.200535.115\" data-track-item_id=\"10.1101\/gr.200535.115\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1101%2Fgr.200535.115\" aria-label=\"Article reference 5\" data-doi=\"10.1101\/gr.200535.115\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC28XhsFOhsb7F\" aria-label=\"CAS reference 5\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=27197224\" aria-label=\"PubMed reference 5\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4937568\" aria-label=\"PubMed Central reference 5\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 5\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Basset%3A%20learning%20the%20regulatory%20code%20of%20the%20accessible%20genome%20with%20deep%20convolutional%20neural%20networks&amp;journal=Genome%20Res.&amp;doi=10.1101%2Fgr.200535.115&amp;volume=26&amp;pages=990-999&amp;publication_year=2016&amp;author=Kelley%2CDR&amp;author=Snoek%2CJ&amp;author=Rinn%2CJL\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR6\">Mansour, M. R. et al. Oncogene regulation. An oncogenic super-enhancer formed through somatic mutation of a noncoding intergenic element. Science 346, 1373\u20131377 (2014).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1126\/science.1259037\" data-track-item_id=\"10.1126\/science.1259037\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1126%2Fscience.1259037\" aria-label=\"Article reference 6\" data-doi=\"10.1126\/science.1259037\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"ads reference\" data-track-action=\"ads reference\" href=\"http:\/\/adsabs.harvard.edu\/cgi-bin\/nph-data_query?link_type=ABSTRACT&amp;bibcode=2014Sci...346.1373M\" aria-label=\"ADS reference 6\" target=\"_blank\">ADS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC2cXitVCgsrnJ\" aria-label=\"CAS reference 6\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=25394790\" aria-label=\"PubMed reference 6\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4720521\" aria-label=\"PubMed Central reference 6\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 6\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Oncogene%20regulation.%20An%20oncogenic%20super-enhancer%20formed%20through%20somatic%20mutation%20of%20a%20noncoding%20intergenic%20element&amp;journal=Science&amp;doi=10.1126%2Fscience.1259037&amp;volume=346&amp;pages=1373-1377&amp;publication_year=2014&amp;author=Mansour%2CMR\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR7\">Halldorsson, B. V. et al. The sequences of 150,119 genomes in the UK Biobank. Nature 607, 732\u2013740 (2022).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41586-022-04965-x\" data-track-item_id=\"10.1038\/s41586-022-04965-x\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41586-022-04965-x\" aria-label=\"Article reference 7\" data-doi=\"10.1038\/s41586-022-04965-x\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"ads reference\" data-track-action=\"ads reference\" href=\"http:\/\/adsabs.harvard.edu\/cgi-bin\/nph-data_query?link_type=ABSTRACT&amp;bibcode=2022Natur.607..732H\" aria-label=\"ADS reference 7\" target=\"_blank\">ADS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB38XhvVOiu7rK\" aria-label=\"CAS reference 7\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=35859178\" aria-label=\"PubMed reference 7\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC9329122\" aria-label=\"PubMed Central reference 7\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 7\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%20sequences%20of%20150%2C119%20genomes%20in%20the%20UK%20Biobank&amp;journal=Nature&amp;doi=10.1038%2Fs41586-022-04965-x&amp;volume=607&amp;pages=732-740&amp;publication_year=2022&amp;author=Halldorsson%2CBV\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR8\">Avsec, \u017d. et al. Base-resolution models of transcription-factor binding reveal soft motif syntax. Nat. Genet. 53, 354\u2013366 (2021).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41588-021-00782-6\" data-track-item_id=\"10.1038\/s41588-021-00782-6\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41588-021-00782-6\" aria-label=\"Article reference 8\" data-doi=\"10.1038\/s41588-021-00782-6\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3MXksFegsL4%3D\" aria-label=\"CAS reference 8\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=33603233\" aria-label=\"PubMed reference 8\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8812996\" aria-label=\"PubMed Central reference 8\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 8\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Base-resolution%20models%20of%20transcription-factor%20binding%20reveal%20soft%20motif%20syntax&amp;journal=Nat.%20Genet.&amp;doi=10.1038%2Fs41588-021-00782-6&amp;volume=53&amp;pages=354-366&amp;publication_year=2021&amp;author=Avsec%2C%C5%BD\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR9\">Cochran, K. et al. Dissecting the cis-regulatory syntax of transcription initiation with deep learning. Preprint at bioRxiv <a href=\"https:\/\/doi.org\/10.1101\/2024.05.28.596138\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1101\/2024.05.28.596138\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1101\/2024.05.28.596138<\/a> (2024).<\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR10\">Trevino, A. E. et al. Chromatin and gene-regulatory dynamics of the developing human cerebral cortex at single-cell resolution. Cell 184, 5053\u20135069 (2021).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1016\/j.cell.2021.07.039\" data-track-item_id=\"10.1016\/j.cell.2021.07.039\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1016%2Fj.cell.2021.07.039\" aria-label=\"Article reference 10\" data-doi=\"10.1016\/j.cell.2021.07.039\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3MXhsl2isLfE\" aria-label=\"CAS reference 10\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=34390642\" aria-label=\"PubMed reference 10\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 10\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Chromatin%20and%20gene-regulatory%20dynamics%20of%20the%20developing%20human%20cerebral%20cortex%20at%20single-cell%20resolution&amp;journal=Cell&amp;doi=10.1016%2Fj.cell.2021.07.039&amp;volume=184&amp;pages=5053-5069&amp;publication_year=2021&amp;author=Trevino%2CAE\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR11\">Zeng, T. &amp; Li, Y. I. Predicting RNA splicing from DNA sequence using Pangolin. Genome Biol. 23, 103 (2022).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"noopener nofollow\" data-track-label=\"10.1186\/s13059-022-02664-4\" data-track-item_id=\"10.1186\/s13059-022-02664-4\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/link.springer.com\/doi\/10.1186\/s13059-022-02664-4\" aria-label=\"Article reference 11\" data-doi=\"10.1186\/s13059-022-02664-4\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB38XhtlOisLzP\" aria-label=\"CAS reference 11\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=35449021\" aria-label=\"PubMed reference 11\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC9022248\" aria-label=\"PubMed Central reference 11\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 11\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Predicting%20RNA%20splicing%20from%20DNA%20sequence%20using%20Pangolin&amp;journal=Genome%20Biol.&amp;doi=10.1186%2Fs13059-022-02664-4&amp;volume=23&amp;publication_year=2022&amp;author=Zeng%2CT&amp;author=Li%2CYI\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR12\">Gschwind, A. R. et al. An encyclopedia of enhancer-gene regulatory interactions in the human genome. Preprint at bioRxiv <a href=\"https:\/\/doi.org\/10.1101\/2023.11.09.563812\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1101\/2023.11.09.563812\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1101\/2023.11.09.563812<\/a> (2023).<\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR13\">Ronneberger, O., Fischer, P. &amp; Brox, T. U-Net: Convolutional networks for biomedical image segmentation. In Proc. International Conference on Medical Image Computing and Computer-Assisted Intervention (MICCAI 2015) 234\u2013241 (Springer, 2015).<\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR14\">Zhou, J., Rizzo, K., Tang, Z. &amp; Koo, P. K. Uncertainty-aware genomic deep learning with knowledge distillation. Preprint at bioRxiv <a href=\"https:\/\/doi.org\/10.1101\/2024.11.13.623485\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1101\/2024.11.13.623485\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1101\/2024.11.13.623485<\/a> (2024).<\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR15\">L\u00f3pez-Bigas, N., Audit, B., Ouzounis, C., Parra, G. &amp; Guig\u00f3, R. Are splicing mutations the most frequent cause of hereditary disease? FEBS Lett. 579, 1900\u20131903 (2005).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1016\/j.febslet.2005.02.047\" data-track-item_id=\"10.1016\/j.febslet.2005.02.047\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1016%2Fj.febslet.2005.02.047\" aria-label=\"Article reference 15\" data-doi=\"10.1016\/j.febslet.2005.02.047\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=15792793\" aria-label=\"PubMed reference 15\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 15\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Are%20splicing%20mutations%20the%20most%20frequent%20cause%20of%20hereditary%20disease%3F&amp;journal=FEBS%20Lett.&amp;doi=10.1016%2Fj.febslet.2005.02.047&amp;volume=579&amp;pages=1900-1903&amp;publication_year=2005&amp;author=L%C3%B3pez-Bigas%2CN&amp;author=Audit%2CB&amp;author=Ouzounis%2CC&amp;author=Parra%2CG&amp;author=Guig%C3%B3%2CR\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR16\">Xu, C. et al. Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences. Genome Res. 34, 1052\u20131065 (2024).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1101\/gr.279044.124\" data-track-item_id=\"10.1101\/gr.279044.124\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1101%2Fgr.279044.124\" aria-label=\"Article reference 16\" data-doi=\"10.1101\/gr.279044.124\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2cXitF2ks7vE\" aria-label=\"CAS reference 16\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=39060028\" aria-label=\"PubMed reference 16\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC11368187\" aria-label=\"PubMed Central reference 16\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 16\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Reference-informed%20prediction%20of%20alternative%20splicing%20and%20splicing-altering%20mutations%20from%20sequences&amp;journal=Genome%20Res.&amp;doi=10.1101%2Fgr.279044.124&amp;volume=34&amp;pages=1052-1065&amp;publication_year=2024&amp;author=Xu%2CC\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR17\">GTEx Consortium The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science 369, 1318\u20131330 (2020).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1126\/science.aaz1776\" data-track-item_id=\"10.1126\/science.aaz1776\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1126%2Fscience.aaz1776\" aria-label=\"Article reference 17\" data-doi=\"10.1126\/science.aaz1776\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 17\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%20GTEx%20Consortium%20atlas%20of%20genetic%20regulatory%20effects%20across%20human%20tissues&amp;journal=Science&amp;doi=10.1126%2Fscience.aaz1776&amp;volume=369&amp;pages=1318-1330&amp;publication_year=2020\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR18\">Wang, Z. &amp; Burge, C. B. Splicing regulation: from a parts list of regulatory elements to an integrated splicing code. RNA 14, 802\u2013813 (2008).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1261\/rna.876308\" data-track-item_id=\"10.1261\/rna.876308\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1261%2Frna.876308\" aria-label=\"Article reference 18\" data-doi=\"10.1261\/rna.876308\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BD1cXls1Wrsbc%3D\" aria-label=\"CAS reference 18\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=18369186\" aria-label=\"PubMed reference 18\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2327353\" aria-label=\"PubMed Central reference 18\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 18\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Splicing%20regulation%3A%20from%20a%20parts%20list%20of%20regulatory%20elements%20to%20an%20integrated%20splicing%20code&amp;journal=RNA&amp;doi=10.1261%2Frna.876308&amp;volume=14&amp;pages=802-813&amp;publication_year=2008&amp;author=Wang%2CZ&amp;author=Burge%2CCB\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR19\">Fairbrother, W. G., Yeh, R.-F., Sharp, P. A. &amp; Burge, C. B. Predictive identification of exonic splicing enhancers in human genes. Science 297, 1007\u20131013 (2002).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1126\/science.1073774\" data-track-item_id=\"10.1126\/science.1073774\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1126%2Fscience.1073774\" aria-label=\"Article reference 19\" data-doi=\"10.1126\/science.1073774\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"ads reference\" data-track-action=\"ads reference\" href=\"http:\/\/adsabs.harvard.edu\/cgi-bin\/nph-data_query?link_type=ABSTRACT&amp;bibcode=2002Sci...297.1007F\" aria-label=\"ADS reference 19\" target=\"_blank\">ADS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BD38Xmt1Ckt74%3D\" aria-label=\"CAS reference 19\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=12114529\" aria-label=\"PubMed reference 19\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 19\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Predictive%20identification%20of%20exonic%20splicing%20enhancers%20in%20human%20genes&amp;journal=Science&amp;doi=10.1126%2Fscience.1073774&amp;volume=297&amp;pages=1007-1013&amp;publication_year=2002&amp;author=Fairbrother%2CWG&amp;author=Yeh%2CR-F&amp;author=Sharp%2CPA&amp;author=Burge%2CCB\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR20\">Alasoo, K. et al. Genetic effects on promoter usage are highly context-specific and contribute to complex traits. eLife 8, e41673 (2019).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.7554\/eLife.41673\" data-track-item_id=\"10.7554\/eLife.41673\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.7554%2FeLife.41673\" aria-label=\"Article reference 20\" data-doi=\"10.7554\/eLife.41673\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=30618377\" aria-label=\"PubMed reference 20\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6349408\" aria-label=\"PubMed Central reference 20\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 20\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Genetic%20effects%20on%20promoter%20usage%20are%20highly%20context-specific%20and%20contribute%20to%20complex%20traits&amp;journal=eLife&amp;doi=10.7554%2FeLife.41673&amp;volume=8&amp;publication_year=2019&amp;author=Alasoo%2CK\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR21\">Landrum, M. J. et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 46, D1062\u2013D1067 (2018).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1093\/nar\/gkx1153\" data-track-item_id=\"10.1093\/nar\/gkx1153\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1093%2Fnar%2Fgkx1153\" aria-label=\"Article reference 21\" data-doi=\"10.1093\/nar\/gkx1153\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC1cXitlGisLfL\" aria-label=\"CAS reference 21\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=29165669\" aria-label=\"PubMed reference 21\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5753237\" aria-label=\"PubMed Central reference 21\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 21\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=ClinVar%3A%20improving%20access%20to%20variant%20interpretations%20and%20supporting%20evidence&amp;journal=Nucleic%20Acids%20Res.&amp;doi=10.1093%2Fnar%2Fgkx1153&amp;volume=46&amp;pages=D1062-D1067&amp;publication_year=2018&amp;author=Landrum%2CMJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR22\">Chong, R. et al. A multiplexed assay for exon recognition reveals that an unappreciated fraction of rare genetic variants cause large-effect splicing disruptions. Mol. Cell 73, 183\u2013194 (2019).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1016\/j.molcel.2018.10.037\" data-track-item_id=\"10.1016\/j.molcel.2018.10.037\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1016%2Fj.molcel.2018.10.037\" aria-label=\"Article reference 22\" data-doi=\"10.1016\/j.molcel.2018.10.037\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=30503770\" aria-label=\"PubMed reference 22\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 22\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%20multiplexed%20assay%20for%20exon%20recognition%20reveals%20that%20an%20unappreciated%20fraction%20of%20rare%20genetic%20variants%20cause%20large-effect%20splicing%20disruptions&amp;journal=Mol.%20Cell&amp;doi=10.1016%2Fj.molcel.2018.10.037&amp;volume=73&amp;pages=183-194&amp;publication_year=2019&amp;author=Chong%2CR\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR23\">Albert, F. W. &amp; Kruglyak, L. The role of regulatory variation in complex traits and disease. Nat. Rev. Genet. 16, 197\u2013212 (2015).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/nrg3891\" data-track-item_id=\"10.1038\/nrg3891\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fnrg3891\" aria-label=\"Article reference 23\" data-doi=\"10.1038\/nrg3891\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC2MXjt1Sgu7Y%3D\" aria-label=\"CAS reference 23\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=25707927\" aria-label=\"PubMed reference 23\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 23\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%20role%20of%20regulatory%20variation%20in%20complex%20traits%20and%20disease&amp;journal=Nat.%20Rev.%20Genet.&amp;doi=10.1038%2Fnrg3891&amp;volume=16&amp;pages=197-212&amp;publication_year=2015&amp;author=Albert%2CFW&amp;author=Kruglyak%2CL\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR24\">Maurano, M. T. et al. Systematic localization of common disease-associated variation in regulatory DNA. Science 337, 1190\u20131195 (2012).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1126\/science.1222794\" data-track-item_id=\"10.1126\/science.1222794\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1126%2Fscience.1222794\" aria-label=\"Article reference 24\" data-doi=\"10.1126\/science.1222794\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"ads reference\" data-track-action=\"ads reference\" href=\"http:\/\/adsabs.harvard.edu\/cgi-bin\/nph-data_query?link_type=ABSTRACT&amp;bibcode=2012Sci...337.1190M\" aria-label=\"ADS reference 24\" target=\"_blank\">ADS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC38Xht1ylsLfL\" aria-label=\"CAS reference 24\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=22955828\" aria-label=\"PubMed reference 24\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3771521\" aria-label=\"PubMed Central reference 24\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 24\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Systematic%20localization%20of%20common%20disease-associated%20variation%20in%20regulatory%20DNA&amp;journal=Science&amp;doi=10.1126%2Fscience.1222794&amp;volume=337&amp;pages=1190-1195&amp;publication_year=2012&amp;author=Maurano%2CMT\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR25\">Wang, G., Sarkar, A., Carbonetto, P. &amp; Stephens, M. A simple new approach to variable selection in regression, with application to genetic fine mapping. J. R. Stat. Soc. B 82, 1273\u20131300 (2020).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1111\/rssb.12388\" data-track-item_id=\"10.1111\/rssb.12388\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1111%2Frssb.12388\" aria-label=\"Article reference 25\" data-doi=\"10.1111\/rssb.12388\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"mathscinet reference\" data-track-action=\"mathscinet reference\" href=\"http:\/\/www.ams.org\/mathscinet-getitem?mr=4176343\" aria-label=\"MathSciNet reference 25\" target=\"_blank\">MathSciNet<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 25\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%20simple%20new%20approach%20to%20variable%20selection%20in%20regression%2C%20with%20application%20to%20genetic%20fine%20mapping&amp;journal=J.%20R.%20Stat.%20Soc.%20B&amp;doi=10.1111%2Frssb.12388&amp;volume=82&amp;pages=1273-1300&amp;publication_year=2020&amp;author=Wang%2CG&amp;author=Sarkar%2CA&amp;author=Carbonetto%2CP&amp;author=Stephens%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR26\">Karollus, A., Mauermeier, T. &amp; Gagneur, J. Current sequence-based models capture gene expression determinants in promoters but mostly ignore distal enhancers. Genome Biol. 24, 56 (2023).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"noopener nofollow\" data-track-label=\"10.1186\/s13059-023-02899-9\" data-track-item_id=\"10.1186\/s13059-023-02899-9\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/link.springer.com\/doi\/10.1186\/s13059-023-02899-9\" aria-label=\"Article reference 26\" data-doi=\"10.1186\/s13059-023-02899-9\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=36973806\" aria-label=\"PubMed reference 26\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10045630\" aria-label=\"PubMed Central reference 26\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 26\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Current%20sequence-based%20models%20capture%20gene%20expression%20determinants%20in%20promoters%20but%20mostly%20ignore%20distal%20enhancers&amp;journal=Genome%20Biol.&amp;doi=10.1186%2Fs13059-023-02899-9&amp;volume=24&amp;publication_year=2023&amp;author=Karollus%2CA&amp;author=Mauermeier%2CT&amp;author=Gagneur%2CJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR27\">Giambartolomei, C. et al. Bayesian test for colocalisation between pairs of genetic association studies using summary statistics. PLoS Genet. 10, e1004383 (2014).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1371\/journal.pgen.1004383\" data-track-item_id=\"10.1371\/journal.pgen.1004383\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1371%2Fjournal.pgen.1004383\" aria-label=\"Article reference 27\" data-doi=\"10.1371\/journal.pgen.1004383\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=24830394\" aria-label=\"PubMed reference 27\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4022491\" aria-label=\"PubMed Central reference 27\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 27\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Bayesian%20test%20for%20colocalisation%20between%20pairs%20of%20genetic%20association%20studies%20using%20summary%20statistics&amp;journal=PLoS%20Genet.&amp;doi=10.1371%2Fjournal.pgen.1004383&amp;volume=10&amp;publication_year=2014&amp;author=Giambartolomei%2CC\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR28\">Tian, B. &amp; Manley, J. L. Alternative polyadenylation of mRNA precursors. Nat. Rev. Mol. Cell Biol. 18, 18\u201330 (2017).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/nrm.2016.116\" data-track-item_id=\"10.1038\/nrm.2016.116\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fnrm.2016.116\" aria-label=\"Article reference 28\" data-doi=\"10.1038\/nrm.2016.116\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC28XhsFymtrzK\" aria-label=\"CAS reference 28\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=27677860\" aria-label=\"PubMed reference 28\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 28\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Alternative%20polyadenylation%20of%20mRNA%20precursors&amp;journal=Nat.%20Rev.%20Mol.%20Cell%20Biol.&amp;doi=10.1038%2Fnrm.2016.116&amp;volume=18&amp;pages=18-30&amp;publication_year=2017&amp;author=Tian%2CB&amp;author=Manley%2CJL\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR29\">Pampari, A. et al. ChromBPNet: bias factorized, base-resolution deep learning models of chromatin accessibility reveal cis-regulatory sequence syntax, transcription factor footprints and regulatory variants. Preprint at bioRxiv <a href=\"https:\/\/doi.org\/10.1101\/2024.12.25.630221\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1101\/2024.12.25.630221\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1101\/2024.12.25.630221<\/a> (2025).<\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR30\">Tehranchi, A. K. et al. Pooled ChIP-seq links variation in transcription factor binding to complex disease risk. Cell 165, 730\u2013741 (2016).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1016\/j.cell.2016.03.041\" data-track-item_id=\"10.1016\/j.cell.2016.03.041\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1016%2Fj.cell.2016.03.041\" aria-label=\"Article reference 30\" data-doi=\"10.1016\/j.cell.2016.03.041\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC28XmtFeisrc%3D\" aria-label=\"CAS reference 30\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=27087447\" aria-label=\"PubMed reference 30\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4842172\" aria-label=\"PubMed Central reference 30\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 30\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Pooled%20ChIP-seq%20links%20variation%20in%20transcription%20factor%20binding%20to%20complex%20disease%20risk&amp;journal=Cell&amp;doi=10.1016%2Fj.cell.2016.03.041&amp;volume=165&amp;pages=730-741&amp;publication_year=2016&amp;author=Tehranchi%2CAK\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR31\">Kircher, M. et al. Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution. Nat. Commun. 10, 3583 (2019).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41467-019-11526-w\" data-track-item_id=\"10.1038\/s41467-019-11526-w\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41467-019-11526-w\" aria-label=\"Article reference 31\" data-doi=\"10.1038\/s41467-019-11526-w\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"ads reference\" data-track-action=\"ads reference\" href=\"http:\/\/adsabs.harvard.edu\/cgi-bin\/nph-data_query?link_type=ABSTRACT&amp;bibcode=2019NatCo..10.3583K\" aria-label=\"ADS reference 31\" target=\"_blank\">ADS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=31395865\" aria-label=\"PubMed reference 31\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6687891\" aria-label=\"PubMed Central reference 31\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 31\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Saturation%20mutagenesis%20of%20twenty%20disease-associated%20regulatory%20elements%20at%20single%20base-pair%20resolution&amp;journal=Nat.%20Commun.&amp;doi=10.1038%2Fs41467-019-11526-w&amp;volume=10&amp;publication_year=2019&amp;author=Kircher%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR32\">Shigaki, D. et al. Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay. Hum. Mutat. 40, 1280\u20131291 (2019).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1002\/humu.23797\" data-track-item_id=\"10.1002\/humu.23797\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1002%2Fhumu.23797\" aria-label=\"Article reference 32\" data-doi=\"10.1002\/humu.23797\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC1MXhslyhurjK\" aria-label=\"CAS reference 32\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=31106481\" aria-label=\"PubMed reference 32\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6879779\" aria-label=\"PubMed Central reference 32\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 32\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Integration%20of%20multiple%20epigenomic%20marks%20improves%20prediction%20of%20variant%20impact%20in%20saturation%20mutagenesis%20reporter%20assay&amp;journal=Hum.%20Mutat.&amp;doi=10.1002%2Fhumu.23797&amp;volume=40&amp;pages=1280-1291&amp;publication_year=2019&amp;author=Shigaki%2CD\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR33\">Liu, Y. et al. The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia. Nat. Genet. 49, 1211\u20131218 (2017).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/ng.3909\" data-track-item_id=\"10.1038\/ng.3909\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fng.3909\" aria-label=\"Article reference 33\" data-doi=\"10.1038\/ng.3909\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC2sXhtFSmt7zM\" aria-label=\"CAS reference 33\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=28671688\" aria-label=\"PubMed reference 33\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5535770\" aria-label=\"PubMed Central reference 33\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 33\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%20genomic%20landscape%20of%20pediatric%20and%20young%20adult%20T-lineage%20acute%20lymphoblastic%20leukemia&amp;journal=Nat.%20Genet.&amp;doi=10.1038%2Fng.3909&amp;volume=49&amp;pages=1211-1218&amp;publication_year=2017&amp;author=Liu%2CY\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR34\">Liu, Y. et al. Discovery of regulatory noncoding variants in individual cancer genomes by using cis-X. Nat. Genet. 52, 811\u2013818 (2020).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41588-020-0659-5\" data-track-item_id=\"10.1038\/s41588-020-0659-5\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41588-020-0659-5\" aria-label=\"Article reference 34\" data-doi=\"10.1038\/s41588-020-0659-5\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3cXhtlagtL3N\" aria-label=\"CAS reference 34\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=32632335\" aria-label=\"PubMed reference 34\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC7679232\" aria-label=\"PubMed Central reference 34\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 34\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Discovery%20of%20regulatory%20noncoding%20variants%20in%20individual%20cancer%20genomes%20by%20using%20cis-X&amp;journal=Nat.%20Genet.&amp;doi=10.1038%2Fs41588-020-0659-5&amp;volume=52&amp;pages=811-818&amp;publication_year=2020&amp;author=Liu%2CY\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR35\">Smith, C. et al. TAL1 activation in T-cell acute lymphoblastic leukemia: a novel oncogenic 3\u2032 neo-enhancer. Haematologica 108, 1259\u20131271 (2023).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.3324\/haematol.2022.281583\" data-track-item_id=\"10.3324\/haematol.2022.281583\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.3324%2Fhaematol.2022.281583\" aria-label=\"Article reference 35\" data-doi=\"10.3324\/haematol.2022.281583\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3sXhtF2rs73P\" aria-label=\"CAS reference 35\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=36632736\" aria-label=\"PubMed reference 35\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10153542\" aria-label=\"PubMed Central reference 35\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 35\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=TAL1%20activation%20in%20T-cell%20acute%20lymphoblastic%20leukemia%3A%20a%20novel%20oncogenic%203%E2%80%B2%20neo-enhancer&amp;journal=Haematologica&amp;doi=10.3324%2Fhaematol.2022.281583&amp;volume=108&amp;pages=1259-1271&amp;publication_year=2023&amp;author=Smith%2CC\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR36\">Celaj, A. et al. An RNA foundation model enables discovery of disease mechanisms and candidate therapeutics. Preprint at bioRxiv <a href=\"https:\/\/doi.org\/10.1101\/2023.09.20.558508\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1101\/2023.09.20.558508\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1101\/2023.09.20.558508<\/a> (2023).<\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR37\">de Almeida, B. P. et al. Targeted design of synthetic enhancers for selected tissues in the Drosophila embryo. Nature 626, 207\u2013211 (2023).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41586-023-06905-9\" data-track-item_id=\"10.1038\/s41586-023-06905-9\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41586-023-06905-9\" aria-label=\"Article reference 37\" data-doi=\"10.1038\/s41586-023-06905-9\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=38086418\" aria-label=\"PubMed reference 37\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10830412\" aria-label=\"PubMed Central reference 37\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 37\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Targeted%20design%20of%20synthetic%20enhancers%20for%20selected%20tissues%20in%20the%20Drosophila%20embryo&amp;journal=Nature&amp;doi=10.1038%2Fs41586-023-06905-9&amp;volume=626&amp;pages=207-211&amp;publication_year=2023&amp;author=Almeida%2CBP\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR38\">Taskiran, I. I. et al. Cell-type-directed design of synthetic enhancers. Nature 626, 212\u2013220 (2023).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41586-023-06936-2\" data-track-item_id=\"10.1038\/s41586-023-06936-2\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41586-023-06936-2\" aria-label=\"Article reference 38\" data-doi=\"10.1038\/s41586-023-06936-2\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"ads reference\" data-track-action=\"ads reference\" href=\"http:\/\/adsabs.harvard.edu\/cgi-bin\/nph-data_query?link_type=ABSTRACT&amp;bibcode=2024Natur.626..212T\" aria-label=\"ADS reference 38\" target=\"_blank\">ADS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=38086419\" aria-label=\"PubMed reference 38\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10830415\" aria-label=\"PubMed Central reference 38\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 38\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Cell-type-directed%20design%20of%20synthetic%20enhancers&amp;journal=Nature&amp;doi=10.1038%2Fs41586-023-06936-2&amp;volume=626&amp;pages=212-220&amp;publication_year=2023&amp;author=Taskiran%2CII\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR39\">Brixi, G. et al. Genome modeling and design across all domains of life with Evo 2. Preprint at bioRxiv <a href=\"https:\/\/doi.org\/10.1101\/2025.02.18.638918\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1101\/2025.02.18.638918\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1101\/2025.02.18.638918<\/a> (2025).<\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR40\">Sasse, A. et al. Benchmarking of deep neural networks for predicting personal gene expression from DNA sequence highlights shortcomings. Nat. Genet. 55, 2060\u20132064 (2023).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41588-023-01524-6\" data-track-item_id=\"10.1038\/s41588-023-01524-6\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41588-023-01524-6\" aria-label=\"Article reference 40\" data-doi=\"10.1038\/s41588-023-01524-6\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3sXisFSmu73O\" aria-label=\"CAS reference 40\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=38036778\" aria-label=\"PubMed reference 40\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 40\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Benchmarking%20of%20deep%20neural%20networks%20for%20predicting%20personal%20gene%20expression%20from%20DNA%20sequence%20highlights%20shortcomings&amp;journal=Nat.%20Genet.&amp;doi=10.1038%2Fs41588-023-01524-6&amp;volume=55&amp;pages=2060-2064&amp;publication_year=2023&amp;author=Sasse%2CA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR41\">Huang, C. et al. Personal transcriptome variation is poorly explained by current genomic deep learning models. Nat. Genet. 55, 2056\u20132059 (2023).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41588-023-01574-w\" data-track-item_id=\"10.1038\/s41588-023-01574-w\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41588-023-01574-w\" aria-label=\"Article reference 41\" data-doi=\"10.1038\/s41588-023-01574-w\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3sXisFSlsr7J\" aria-label=\"CAS reference 41\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=38036790\" aria-label=\"PubMed reference 41\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10703684\" aria-label=\"PubMed Central reference 41\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 41\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Personal%20transcriptome%20variation%20is%20poorly%20explained%20by%20current%20genomic%20deep%20learning%20models&amp;journal=Nat.%20Genet.&amp;doi=10.1038%2Fs41588-023-01574-w&amp;volume=55&amp;pages=2056-2059&amp;publication_year=2023&amp;author=Huang%2CC\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR42\">Finucane, H. K. et al. Variant scoring performance across selection regimes depends on variant-to-gene and gene-to-disease components. Preprint at bioRxiv <a href=\"https:\/\/doi.org\/10.1101\/2024.09.17.613327\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1101\/2024.09.17.613327\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1101\/2024.09.17.613327<\/a> (2024).<\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR43\">Hingerl, J. C. et al. Scooby: modeling multimodal genomic profiles from DNA sequence at single-cell resolution. Nat. Methods 22, 2275\u20132285 (2025).<\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR44\">Lal, A. et al. Decoding sequence determinants of gene expression in diverse cellular and disease states. Preprint at bioRxiv <a href=\"https:\/\/doi.org\/10.1101\/2024.10.09.617507\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1101\/2024.10.09.617507\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1101\/2024.10.09.617507<\/a> (2025).<\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR45\">Dalla-Torre, H. et al. Nucleotide transformer: building and evaluating robust foundation models for human genomics. Nat. Methods 22, 287\u2013297 (2025).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41592-024-02523-z\" data-track-item_id=\"10.1038\/s41592-024-02523-z\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41592-024-02523-z\" aria-label=\"Article reference 45\" data-doi=\"10.1038\/s41592-024-02523-z\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2cXis1amurfE\" aria-label=\"CAS reference 45\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=39609566\" aria-label=\"PubMed reference 45\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 45\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Nucleotide%20transformer%3A%20building%20and%20evaluating%20robust%20foundation%20models%20for%20human%20genomics&amp;journal=Nat.%20Methods&amp;doi=10.1038%2Fs41592-024-02523-z&amp;volume=22&amp;pages=287-297&amp;publication_year=2025&amp;author=Dalla-Torre%2CH\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR46\">Karollus, A. et al. Species-aware DNA language models capture regulatory elements and their evolution. Genome Biol. 25, 83 (2024).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"noopener nofollow\" data-track-label=\"10.1186\/s13059-024-03221-x\" data-track-item_id=\"10.1186\/s13059-024-03221-x\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/link.springer.com\/doi\/10.1186\/s13059-024-03221-x\" aria-label=\"Article reference 46\" data-doi=\"10.1186\/s13059-024-03221-x\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2cXotVWhurk%3D\" aria-label=\"CAS reference 46\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=38566111\" aria-label=\"PubMed reference 46\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10985990\" aria-label=\"PubMed Central reference 46\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 46\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Species-aware%20DNA%20language%20models%20capture%20regulatory%20elements%20and%20their%20evolution&amp;journal=Genome%20Biol.&amp;doi=10.1186%2Fs13059-024-03221-x&amp;volume=25&amp;publication_year=2024&amp;author=Karollus%2CA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR47\">Benegas, G., Batra, S. S. &amp; Song, Y. S. DNA language models are powerful predictors of genome-wide variant effects. Proc. Natl Acad. Sci. USA 120, e2311219120 (2023).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1073\/pnas.2311219120\" data-track-item_id=\"10.1073\/pnas.2311219120\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1073%2Fpnas.2311219120\" aria-label=\"Article reference 47\" data-doi=\"10.1073\/pnas.2311219120\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3sXisVylsLvF\" aria-label=\"CAS reference 47\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=37883436\" aria-label=\"PubMed reference 47\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10622914\" aria-label=\"PubMed Central reference 47\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 47\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=DNA%20language%20models%20are%20powerful%20predictors%20of%20genome-wide%20variant%20effects&amp;journal=Proc.%20Natl%20Acad.%20Sci.%20USA&amp;doi=10.1073%2Fpnas.2311219120&amp;volume=120&amp;publication_year=2023&amp;author=Benegas%2CG&amp;author=Batra%2CSS&amp;author=Song%2CYS\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR48\">Hu, Y. et al. Multiscale footprints reveal the organization of cis-regulatory elements. Nature 638, 779\u2013786 (2025).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41586-024-08443-4\" data-track-item_id=\"10.1038\/s41586-024-08443-4\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41586-024-08443-4\" aria-label=\"Article reference 48\" data-doi=\"10.1038\/s41586-024-08443-4\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"ads reference\" data-track-action=\"ads reference\" href=\"http:\/\/adsabs.harvard.edu\/cgi-bin\/nph-data_query?link_type=ABSTRACT&amp;bibcode=2025Natur.638..779H\" aria-label=\"ADS reference 48\" target=\"_blank\">ADS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2MXhvFyjtLY%3D\" aria-label=\"CAS reference 48\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=39843737\" aria-label=\"PubMed reference 48\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC11839466\" aria-label=\"PubMed Central reference 48\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 48\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Multiscale%20footprints%20reveal%20the%20organization%20of%20cis-regulatory%20elements&amp;journal=Nature&amp;doi=10.1038%2Fs41586-024-08443-4&amp;volume=638&amp;pages=779-786&amp;publication_year=2025&amp;author=Hu%2CY\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR49\">Ling, J. P. et al. ASCOT identifies key regulators of neuronal subtype-specific splicing. Nat. Commun. 11, 137 (2020).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41467-019-14020-5\" data-track-item_id=\"10.1038\/s41467-019-14020-5\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41467-019-14020-5\" aria-label=\"Article reference 49\" data-doi=\"10.1038\/s41467-019-14020-5\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"ads reference\" data-track-action=\"ads reference\" href=\"http:\/\/adsabs.harvard.edu\/cgi-bin\/nph-data_query?link_type=ABSTRACT&amp;bibcode=2020NatCo..11..137L\" aria-label=\"ADS reference 49\" target=\"_blank\">ADS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3cXpt1ymuw%3D%3D\" aria-label=\"CAS reference 49\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=31919425\" aria-label=\"PubMed reference 49\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6952364\" aria-label=\"PubMed Central reference 49\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 49\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=ASCOT%20identifies%20key%20regulators%20of%20neuronal%20subtype-specific%20splicing&amp;journal=Nat.%20Commun.&amp;doi=10.1038%2Fs41467-019-14020-5&amp;volume=11&amp;publication_year=2020&amp;author=Ling%2CJP\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR50\">Wagner, N. et al. Aberrant splicing prediction across human tissues. Nat. Genet. 55, 861\u2013870 (2023).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41588-023-01373-3\" data-track-item_id=\"10.1038\/s41588-023-01373-3\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41588-023-01373-3\" aria-label=\"Article reference 50\" data-doi=\"10.1038\/s41588-023-01373-3\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3sXpsVeqt7g%3D\" aria-label=\"CAS reference 50\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=37142848\" aria-label=\"PubMed reference 50\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 50\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Aberrant%20splicing%20prediction%20across%20human%20tissues&amp;journal=Nat.%20Genet.&amp;doi=10.1038%2Fs41588-023-01373-3&amp;volume=55&amp;pages=861-870&amp;publication_year=2023&amp;author=Wagner%2CN\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR51\">Cheng, J. et al. Accurate proteome-wide missense variant effect prediction with AlphaMissense. Science 381, eadg7492 (2023).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1126\/science.adg7492\" data-track-item_id=\"10.1126\/science.adg7492\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1126%2Fscience.adg7492\" aria-label=\"Article reference 51\" data-doi=\"10.1126\/science.adg7492\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3sXhvFyjtbfE\" aria-label=\"CAS reference 51\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=37733863\" aria-label=\"PubMed reference 51\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 51\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Accurate%20proteome-wide%20missense%20variant%20effect%20prediction%20with%20AlphaMissense&amp;journal=Science&amp;doi=10.1126%2Fscience.adg7492&amp;volume=381&amp;publication_year=2023&amp;author=Cheng%2CJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR52\">Mountjoy, E. et al. An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci. Nat. Genet. 53, 1527\u20131533 (2021).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41588-021-00945-5\" data-track-item_id=\"10.1038\/s41588-021-00945-5\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41588-021-00945-5\" aria-label=\"Article reference 52\" data-doi=\"10.1038\/s41588-021-00945-5\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3MXitlOlurbE\" aria-label=\"CAS reference 52\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=34711957\" aria-label=\"PubMed reference 52\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC7611956\" aria-label=\"PubMed Central reference 52\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 52\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=An%20open%20approach%20to%20systematically%20prioritize%20causal%20variants%20and%20genes%20at%20all%20published%20human%20GWAS%20trait-associated%20loci&amp;journal=Nat.%20Genet.&amp;doi=10.1038%2Fs41588-021-00945-5&amp;volume=53&amp;pages=1527-1533&amp;publication_year=2021&amp;author=Mountjoy%2CE\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR53\">Rauluseviciute, I. et al. JASPAR 2024: 20th anniversary of the open-access database of transcription factor binding profiles. Nucleic Acids Res. 52, D174\u2013D182 (2024).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1093\/nar\/gkad1059\" data-track-item_id=\"10.1093\/nar\/gkad1059\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1093%2Fnar%2Fgkad1059\" aria-label=\"Article reference 53\" data-doi=\"10.1093\/nar\/gkad1059\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2cXivVamsLzL\" aria-label=\"CAS reference 53\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=37962376\" aria-label=\"PubMed reference 53\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10767809\" aria-label=\"PubMed Central reference 53\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 53\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=JASPAR%202024%3A%2020th%20anniversary%20of%20the%20open-access%20database%20of%20transcription%20factor%20binding%20profiles&amp;journal=Nucleic%20Acids%20Res.&amp;doi=10.1093%2Fnar%2Fgkad1059&amp;volume=52&amp;pages=D174-D182&amp;publication_year=2024&amp;author=Rauluseviciute%2CI\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR54\">Newburger, D. E. &amp; Bulyk, M. L. UniPROBE: an online database of protein binding microarray data on protein\u2013DNA interactions. Nucleic Acids Res. 37, D77\u2013D82 (2009).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1093\/nar\/gkn660\" data-track-item_id=\"10.1093\/nar\/gkn660\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1093%2Fnar%2Fgkn660\" aria-label=\"Article reference 54\" data-doi=\"10.1093\/nar\/gkn660\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BD1cXhsFejtLzL\" aria-label=\"CAS reference 54\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=18842628\" aria-label=\"PubMed reference 54\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 54\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=UniPROBE%3A%20an%20online%20database%20of%20protein%20binding%20microarray%20data%20on%20protein%E2%80%93DNA%20interactions&amp;journal=Nucleic%20Acids%20Res.&amp;doi=10.1093%2Fnar%2Fgkn660&amp;volume=37&amp;pages=D77-D82&amp;publication_year=2009&amp;author=Newburger%2CDE&amp;author=Bulyk%2CML\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR55\">Benegas, G., Eraslan, G. &amp; Song, Y. S. Benchmarking DNA sequence models for causal regulatory variant prediction in human genetics. Preprint at bioRxiv <a href=\"https:\/\/doi.org\/10.1101\/2025.02.11.637758\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1101\/2025.02.11.637758\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1101\/2025.02.11.637758<\/a> (2025).<\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR56\">Mohammadi, P., Castel, S. E., Brown, A. A. &amp; Lappalainen, T. Quantifying the regulatory effect size of cis-acting genetic variation using allelic fold change. Genome Res. 27, 1872\u20131884 (2017).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1101\/gr.216747.116\" data-track-item_id=\"10.1101\/gr.216747.116\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1101%2Fgr.216747.116\" aria-label=\"Article reference 56\" data-doi=\"10.1101\/gr.216747.116\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC2sXhslyit7fK\" aria-label=\"CAS reference 56\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=29021289\" aria-label=\"PubMed reference 56\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5668944\" aria-label=\"PubMed Central reference 56\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 56\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Quantifying%20the%20regulatory%20effect%20size%20of%20cis-acting%20genetic%20variation%20using%20allelic%20fold%20change&amp;journal=Genome%20Res.&amp;doi=10.1101%2Fgr.216747.116&amp;volume=27&amp;pages=1872-1884&amp;publication_year=2017&amp;author=Mohammadi%2CP&amp;author=Castel%2CSE&amp;author=Brown%2CAA&amp;author=Lappalainen%2CT\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR57\">Matsunaga, A. et al. Compound heterozygosity for an apolipoprotein A1 gene promoter mutation and a structural nonsense mutation with apolipoprotein A1 deficiency. Arterioscler. Thromb. Vasc. Biol. 19, 348\u2013355 (1999).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1161\/01.ATV.19.2.348\" data-track-item_id=\"10.1161\/01.ATV.19.2.348\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1161%2F01.ATV.19.2.348\" aria-label=\"Article reference 57\" data-doi=\"10.1161\/01.ATV.19.2.348\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DyaK1MXhsFSjtb0%3D\" aria-label=\"CAS reference 57\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=9974418\" aria-label=\"PubMed reference 57\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 57\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Compound%20heterozygosity%20for%20an%20apolipoprotein%20A1%20gene%20promoter%20mutation%20and%20a%20structural%20nonsense%20mutation%20with%20apolipoprotein%20A1%20deficiency&amp;journal=Arterioscler.%20Thromb.%20Vasc.%20Biol.&amp;doi=10.1161%2F01.ATV.19.2.348&amp;volume=19&amp;pages=348-355&amp;publication_year=1999&amp;author=Matsunaga%2CA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR58\">Y\u00fcregir, G. T. et al. Hb H disease in a Turkish family resulting from the interaction of a deletional \u03b1-thalassaemia-1 and a newly discovered poly A mutation. Br. J. Haematol. 80, 527\u2013532 (1992).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1111\/j.1365-2141.1992.tb04568.x\" data-track-item_id=\"10.1111\/j.1365-2141.1992.tb04568.x\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1111%2Fj.1365-2141.1992.tb04568.x\" aria-label=\"Article reference 58\" data-doi=\"10.1111\/j.1365-2141.1992.tb04568.x\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=1581238\" aria-label=\"PubMed reference 58\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 58\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Hb%20H%20disease%20in%20a%20Turkish%20family%20resulting%20from%20the%20interaction%20of%20a%20deletional%20%CE%B1-thalassaemia-1%20and%20a%20newly%20discovered%20poly%20A%20mutation&amp;journal=Br.%20J.%20Haematol.&amp;doi=10.1111%2Fj.1365-2141.1992.tb04568.x&amp;volume=80&amp;pages=527-532&amp;publication_year=1992&amp;author=Y%C3%BCregir%2CGT\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR59\">Heibel, S. K. et al. N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy. Hum. Mutat. 32, 1153\u20131160 (2011).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1002\/humu.21553\" data-track-item_id=\"10.1002\/humu.21553\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1002%2Fhumu.21553\" aria-label=\"Article reference 59\" data-doi=\"10.1002\/humu.21553\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC3MXhtF2jtbzO\" aria-label=\"CAS reference 59\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=21681857\" aria-label=\"PubMed reference 59\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3976964\" aria-label=\"PubMed Central reference 59\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 59\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=N-carbamylglutamate%20enhancement%20of%20ureagenesis%20leads%20to%20discovery%20of%20a%20novel%20deleterious%20mutation%20in%20a%20newly%20defined%20enhancer%20of%20the%20NAGS%20gene%20and%20to%20effective%20therapy&amp;journal=Hum.%20Mutat.&amp;doi=10.1002%2Fhumu.21553&amp;volume=32&amp;pages=1153-1160&amp;publication_year=2011&amp;author=Heibel%2CSK\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR60\">Kaneko, K. et al. Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia. Haematologica 99, 252\u2013261 (2014).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.3324\/haematol.2013.085449\" data-track-item_id=\"10.3324\/haematol.2013.085449\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.3324%2Fhaematol.2013.085449\" aria-label=\"Article reference 60\" data-doi=\"10.3324\/haematol.2013.085449\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC2cXhvFGqt7fJ\" aria-label=\"CAS reference 60\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=23935018\" aria-label=\"PubMed reference 60\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 60\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Identification%20of%20a%20novel%20erythroid-specific%20enhancer%20for%20the%20ALAS2%20gene%20and%20its%20loss-of-function%20mutation%20which%20is%20associated%20with%20congenital%20sideroblastic%20anemia&amp;journal=Haematologica&amp;doi=10.3324%2Fhaematol.2013.085449&amp;volume=99&amp;pages=252-261&amp;publication_year=2014&amp;author=Kaneko%2CK\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR61\">Horn, S. et al. TERT promoter mutations in familial and sporadic melanoma. Science 339, 959\u2013961 (2013).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1126\/science.1230062\" data-track-item_id=\"10.1126\/science.1230062\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1126%2Fscience.1230062\" aria-label=\"Article reference 61\" data-doi=\"10.1126\/science.1230062\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"ads reference\" data-track-action=\"ads reference\" href=\"http:\/\/adsabs.harvard.edu\/cgi-bin\/nph-data_query?link_type=ABSTRACT&amp;bibcode=2013Sci...339..959H\" aria-label=\"ADS reference 61\" target=\"_blank\">ADS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC3sXis1Oisbs%3D\" aria-label=\"CAS reference 61\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=23348503\" aria-label=\"PubMed reference 61\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 61\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=TERT%20promoter%20mutations%20in%20familial%20and%20sporadic%20melanoma&amp;journal=Science&amp;doi=10.1126%2Fscience.1230062&amp;volume=339&amp;pages=959-961&amp;publication_year=2013&amp;author=Horn%2CS\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR62\">Pollard, K. S., Hubisz, M. J., Rosenbloom, K. R. &amp; Siepel, A. Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res. 20, 110\u2013121 (2010).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1101\/gr.097857.109\" data-track-item_id=\"10.1101\/gr.097857.109\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1101%2Fgr.097857.109\" aria-label=\"Article reference 62\" data-doi=\"10.1101\/gr.097857.109\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC3cXls1OlsQ%3D%3D\" aria-label=\"CAS reference 62\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=19858363\" aria-label=\"PubMed reference 62\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 62\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Detection%20of%20nonneutral%20substitution%20rates%20on%20mammalian%20phylogenies&amp;journal=Genome%20Res.&amp;doi=10.1101%2Fgr.097857.109&amp;volume=20&amp;pages=110-121&amp;publication_year=2010&amp;author=Pollard%2CKS&amp;author=Hubisz%2CMJ&amp;author=Rosenbloom%2CKR&amp;author=Siepel%2CA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR63\">Collins, F. S. et al. Concordance of a point mutation 5\u2032 to the G\u03b3 globin gene with G\u03b3\u03b2+ hereditary persistence of fetal hemoglobin in the black population. Blood 64, 1292\u20131296 (1984).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1182\/blood.V64.6.1292.1292\" data-track-item_id=\"10.1182\/blood.V64.6.1292.1292\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1182%2Fblood.V64.6.1292.1292\" aria-label=\"Article reference 63\" data-doi=\"10.1182\/blood.V64.6.1292.1292\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DyaL2MXktVyruw%3D%3D\" aria-label=\"CAS reference 63\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=6208955\" aria-label=\"PubMed reference 63\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 63\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Concordance%20of%20a%20point%20mutation%205%E2%80%B2%20to%20the%20G%CE%B3%20globin%20gene%20with%20G%CE%B3%CE%B2%2B%20hereditary%20persistence%20of%20fetal%20hemoglobin%20in%20the%20black%20population&amp;journal=Blood&amp;doi=10.1182%2Fblood.V64.6.1292.1292&amp;volume=64&amp;pages=1292-1296&amp;publication_year=1984&amp;author=Collins%2CFS\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR64\">Graham, S. E. et al. The power of genetic diversity in genome-wide association studies of lipids. Nature 600, 675\u2013679 (2021).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41586-021-04064-3\" data-track-item_id=\"10.1038\/s41586-021-04064-3\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41586-021-04064-3\" aria-label=\"Article reference 64\" data-doi=\"10.1038\/s41586-021-04064-3\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"ads reference\" data-track-action=\"ads reference\" href=\"http:\/\/adsabs.harvard.edu\/cgi-bin\/nph-data_query?link_type=ABSTRACT&amp;bibcode=2021Natur.600..675G\" aria-label=\"ADS reference 64\" target=\"_blank\">ADS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3MXislWkt73M\" aria-label=\"CAS reference 64\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=34887591\" aria-label=\"PubMed reference 64\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8730582\" aria-label=\"PubMed Central reference 64\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 64\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%20power%20of%20genetic%20diversity%20in%20genome-wide%20association%20studies%20of%20lipids&amp;journal=Nature&amp;doi=10.1038%2Fs41586-021-04064-3&amp;volume=600&amp;pages=675-679&amp;publication_year=2021&amp;author=Graham%2CSE\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR65\">Sun, B. B. et al. Plasma proteomic associations with genetics and health in the UK Biobank. Nature 622, 329\u2013338 (2023).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41586-023-06592-6\" data-track-item_id=\"10.1038\/s41586-023-06592-6\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41586-023-06592-6\" aria-label=\"Article reference 65\" data-doi=\"10.1038\/s41586-023-06592-6\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3sXitVGqsbbJ\" aria-label=\"CAS reference 65\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=37794186\" aria-label=\"PubMed reference 65\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10567551\" aria-label=\"PubMed Central reference 65\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 65\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Plasma%20proteomic%20associations%20with%20genetics%20and%20health%20in%20the%20UK%20Biobank&amp;journal=Nature&amp;doi=10.1038%2Fs41586-023-06592-6&amp;volume=622&amp;pages=329-338&amp;publication_year=2023&amp;author=Sun%2CBB\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR66\">Mbatchou, J. et al. Computationally efficient whole-genome regression for quantitative and binary traits. Nat. Genet. 53, 1097\u20131103 (2021).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41588-021-00870-7\" data-track-item_id=\"10.1038\/s41588-021-00870-7\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41588-021-00870-7\" aria-label=\"Article reference 66\" data-doi=\"10.1038\/s41588-021-00870-7\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3MXhtFehsbrI\" aria-label=\"CAS reference 66\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=34017140\" aria-label=\"PubMed reference 66\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 66\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Computationally%20efficient%20whole-genome%20regression%20for%20quantitative%20and%20binary%20traits&amp;journal=Nat.%20Genet.&amp;doi=10.1038%2Fs41588-021-00870-7&amp;volume=53&amp;pages=1097-1103&amp;publication_year=2021&amp;author=Mbatchou%2CJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR67\">Chen, J. et al. WNT7B promotes bone formation in part through mTORC1. PLoS Genet. 10, e1004145 (2014).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1371\/journal.pgen.1004145\" data-track-item_id=\"10.1371\/journal.pgen.1004145\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1371%2Fjournal.pgen.1004145\" aria-label=\"Article reference 67\" data-doi=\"10.1371\/journal.pgen.1004145\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=24497849\" aria-label=\"PubMed reference 67\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3907335\" aria-label=\"PubMed Central reference 67\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 67\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=WNT7B%20promotes%20bone%20formation%20in%20part%20through%20mTORC1&amp;journal=PLoS%20Genet.&amp;doi=10.1371%2Fjournal.pgen.1004145&amp;volume=10&amp;publication_year=2014&amp;author=Chen%2CJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n","protected":false},"excerpt":{"rendered":"Avsec, \u017d. et al. Effective gene expression prediction from sequence by integrating long-range interactions. Nat. Methods 18, 1196\u20131203&hellip;\n","protected":false},"author":2,"featured_media":27861,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[5044,18496,132,7543,1743,50,1744,160],"class_list":{"0":"post-27860","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-google","8":"tag-deepmind","9":"tag-genome-informatics","10":"tag-google","11":"tag-google-deepmind","12":"tag-humanities-and-social-sciences","13":"tag-machine-learning","14":"tag-multidisciplinary","15":"tag-science"},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/ai\/wp-json\/wp\/v2\/posts\/27860","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/ai\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/ai\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ai\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ai\/wp-json\/wp\/v2\/comments?post=27860"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/ai\/wp-json\/wp\/v2\/posts\/27860\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ai\/wp-json\/wp\/v2\/media\/27861"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/ai\/wp-json\/wp\/v2\/media?parent=27860"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/ai\/wp-json\/wp\/v2\/categories?post=27860"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/ai\/wp-json\/wp\/v2\/tags?post=27860"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}