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Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts.

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Title: Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts.
Authors: Wright CF; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, Exeter, UK. caroline.wright@exeter.ac.uk., Sharp LN; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, Exeter, UK., Jackson L; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, Exeter, UK., Murray A; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, Exeter, UK., Ware JS; National Heart and Lung Institute and MRC Laboratory of Medical Sciences, Imperial College London, London, UK.; Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK.; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Rehm HL; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Patel KA; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, Exeter, UK., Weedon MN; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, Exeter, UK. m.n.weedon@exeter.ac.uk.
Source: Nature genetics [Nat Genet] 2024 Sep; Vol. 56 (9), pp. 1772-1779. Date of Electronic Publication: 2024 Jul 29.
Publication Type: Journal Article; Review
Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Wright+CF%22">Wright CF</searchLink>; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, Exeter, UK. caroline.wright@exeter.ac.uk.<br /><searchLink fieldCode="AU" term="%22Sharp+LN%22">Sharp LN</searchLink>; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Jackson+L%22">Jackson L</searchLink>; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Murray+A%22">Murray A</searchLink>; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Ware+JS%22">Ware JS</searchLink>; National Heart and Lung Institute and MRC Laboratory of Medical Sciences, Imperial College London, London, UK.; Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK.; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22MacArthur+DG%22">MacArthur DG</searchLink>; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Rehm+HL%22">Rehm HL</searchLink>; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Patel+KA%22">Patel KA</searchLink>; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Weedon+MN%22">Weedon MN</searchLink>; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, Exeter, UK. m.n.weedon@exeter.ac.uk.
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  Data: <searchLink fieldCode="JN" term="%229216904%22">Nature genetics</searchLink> [Nat Genet] 2024 Sep; Vol. 56 (9), pp. 1772-1779. <i>Date of Electronic Publication: </i>2024 Jul 29.
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