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

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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
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  Data: Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease.
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  Data: <searchLink fieldCode="AU" term="%22Baya+NA%22">Baya NA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lassen+FH%22">Lassen FH</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Hill+B%22">Hill B</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Venkatesh+SS%22">Venkatesh SS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Currant+H%22">Currant H</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lindgren+CM%22">Lindgren CM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Palmer+DS%22">Palmer DS</searchLink>; 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.
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      – Type: doi
        Value: 10.1016/j.ajhg.2026.05.013
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        Text: English
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            – D: 22
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              Text: 2026 Jun 22
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              Y: 2026
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