Advances in haplotype phasing and genotype imputation
Voight, B. F., Kudaravalli, S., Wen, X. & Pritchard, J. K. A map of recent positive selection in…
Further phenotypical delineation of DLG3-related neurodevelopmental disorders
Elias GM, Elias LAB, Apostolides PF, Kriegstein AR, Nicoll RA. Differential trafficking of AMPA and NMDA receptors by…
Rapid epigenomic classification of acute leukemia
A comprehensive DNA methylation reference of acute leukemia We curated a comprehensive DNA methylation-based reference cohort from published…
Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects
Abul-Husn, N. S. & Kenny, E. E. Personalized medicine and the power of electronic health records. Cell 177,…
Regulatory genome annotation | Nature Reviews Genetics
Gerstein, M. B. et al. Architecture of the human regulatory network derived from ENCODE data. Nature 489, 91–100…
Unravelling the genetics and epigenetics of the ageing tumour microenvironment in cancer
de Magalhaes, J. P. How ageing processes influence cancer. Nat. Rev. Cancer 13, 357–365 (2013). Article PubMed Google…
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)
Capone VP, Morello W, Taroni F, Montini G. Genetics of congenital anomalies of the kidney and urinary tract:…
Closing the gap in HCV care: strategic collaboration between industry, academic, community, and nonprofit researchers
Simplified care cascades with easier treatment access are needed to ensure optimal treatment uptake with minimal patient loss…
Chromatin dynamics of a large-sized genome provides insights into polyphenism and X0 dosage compensation of locusts
Chromosome-level assembly of the migratory locust We conducted genome sequencing on an adult female locust with a heterozygosity…
Tamoxifen induces PI3K activation in uterine cancer
Ethics statement This study complies with all relevant ethical regulations. TAMARISK specimens were obtained and sequenced with the…