Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease.

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Bibliographic Details
Title: Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease.
Authors: Baya NA; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK; Department of Statistics, University of Oxford, Oxford, UK. Electronic address: nikolasbaya@gmail.com., Lassen FH; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK., Hill B; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK; Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, UK., Venkatesh SS; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK., Currant H; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK; Nuffield Department of Women's and Reproductive Health, Medical Sciences Division, University of Oxford, Oxford, UK., Lindgren CM; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK; Nuffield Department of Women's and Reproductive Health, Medical Sciences Division, University of Oxford, Oxford, UK; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Palmer DS; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK; Department of Statistics, University of Oxford, Oxford, UK; Broad Institute of MIT and Harvard, Cambridge, MA, USA; The Pioneer Centre for SMARTbiomed, Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK. Electronic address: duncan.stuart.palmer@gmail.com.
Source: American journal of human genetics [Am J Hum Genet] 2026 Jun 22. Date of Electronic Publication: 2026 Jun 22.
Publication Type: Journal Article
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1537-6605
DOI:10.1016/j.ajhg.2026.05.013