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…
Cognitive bias in clinical large language models
Biases affecting clinical LLM systems can arise at multiple stages, including data-related biases from collection and representation, model-related…
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…
Exercise therapy and self-management support for individuals with multimorbidity: a randomized and controlled trial
Study design This was a pragmatic, assessor-blinded, multicenter, parallel-group RCT (1:1 treatment allocation) with follow-up assessments at 4,…
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,…