Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy
Cancer is a genetic disease stemming from a combination of inherited and acquired mutations. Much of our understanding…
Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs
Ethics We received approval to access and analyze deidentified genetic and phenotypic data from the two cohorts from…
Single-cell Micro-C profiles 3D genome structures at high resolution and characterizes multi-enhancer hubs
Development of scMicro-C The previously reported bulk Micro-C chemistry, although offering nucleosome-level contact maps, cannot be applied to…
The long-term effects of chemotherapy on normal blood cells
Genome sequencing of chemotherapy-exposed blood To conduct a primary survey of chemotherapy effects on normal blood cell genomes,…
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,…