Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases
Overview of the undiagnosed diseases network patient cohort We assemble a cohort of 465 patients in the Undiagnosed…
Incorporating genetic data improves target trial emulations and informs the use of polygenic scores in randomized controlled trial design
Ethics statement This study complies with all relevant ethical regulations and was conducted in accordance with the research…
RNA polymerase II transcription compartments — from factories to condensates
Baum, M., Erdel, F., Wachsmuth, M. & Rippe, K. Retrieving the intracellular topology from multi-scale protein mobility mapping…
Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease highlight shared and tissue-specific effects
Huntington’s Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on…
RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network
Cheung R, Insigne KD, Yao D, Burghard CP, Wang J, Hsiao Y-HE, et al. A multiplexed assay for…
Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement
We here describe the clinical features of a cohort of 10 patients with germline SH2B3 variants. In our…
A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot
van der Linde D, Konings EEM, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJM, et al. Birth prevalence…
Inherited mitochondrial genetics as a predictor of immune checkpoint inhibition efficacy in melanoma
MT-HGs are associated with efficacy in NIVO-treated patients In this study, we tested whether MT-HGs, as inherited genetic…
Genomics of host–microbiome interactions in humans
Valdes, A. M., Walter, J., Segal, E. & Spector, T. D. Role of the gut microbiota in nutrition…
An application of the MR-Horse method to reduce selection bias in genome-wide association studies of disease progression
Simulations In order to test this novel application of the method we first simulated GWAS of disease incidence…