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,…
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,…
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…