Individuals whose phenotype deviates from genetic expectation defined by common variation are enriched for rare damaging variants in genes that cause rare disease.

Saved in:
Bibliographic Details
Title: Individuals whose phenotype deviates from genetic expectation defined by common variation are enriched for rare damaging variants in genes that cause rare disease.
Authors: Baya NA; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, United Kingdom.; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom.; Department of Statistics, University of Oxford, Oxford, United Kingdom., Lassen FH; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, United Kingdom.; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom., Hill B; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, United Kingdom., Venkatesh SS; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, United Kingdom.; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom., Currant H; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, United Kingdom.; Nuffield Department of Women's and Reproductive Health, Medical Sciences Division, University of Oxford, United Kingdom., Lindgren CM; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, United Kingdom.; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom.; Nuffield Department of Women's and Reproductive Health, Medical Sciences Division, University of Oxford, United Kingdom.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America., Palmer DS; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, United Kingdom.; Department of Statistics, University of Oxford, Oxford, United Kingdom.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.; The Pioneer Centre for SMARTbiomed, Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, United Kingdom.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Dec 31. Date of Electronic Publication: 2025 Dec 31.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
DOI:10.64898/2025.12.30.25343229