The role of untranslated region variants in Mendelian disease: a review
100,000 Genomes Project Pilot Investigators, Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, et al. 100,000…
Predicting resistance to chemotherapy using chromosomal instability signatures
CIN signatures as biomarkers of chemotherapy resistance The presence of CIN in a tumor has long been recognized…
How and when organisms edit their own genomes
Lindahl, T. Instability and decay of the primary structure of DNA. Nature 362, 709–715 (1993). Article CAS PubMed …
Single-cell and spatial transcriptomics of stricturing Crohn’s disease highlights a fibrosis-associated network
Lewis, J. D. et al. Incidence, prevalence, and racial and ethnic distribution of inflammatory bowel disease in the…
Single-cell eQTL analysis identifies genetic variation underlying metabolic dysfunction-associated steatohepatitis
Diehl, A. M. & Day, C. Cause, pathogenesis, and treatment of nonalcoholic steatohepatitis. N. Engl. J. Med. 377,…
Using large-scale population-based data to improve disease risk assessment of clinical variants
Turro, E. et al. Whole-genome sequencing of patients with rare diseases in a national health system. Nature 583,…
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…
Review of 40 genes causing congenital myasthenic syndromes
Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Clinical and pathologic features of congenital myasthenic syndromes…
Integration of MRI radiomics and germline genetics to predict the IDH mutation status of gliomas
An overview of the study design and analysis is provided in Fig. 1. Demographic and clinical characteristics of…