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Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.

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Title: Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.
Authors: Gudmundsson S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden., Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Stenton SL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Goodrich JK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wilson MW; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Einson J; New York Genome Center, New York, NY, USA., Watts NA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lappalainen T; Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden.; New York Genome Center, New York, NY, USA., Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; 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, Australia., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Corporate Authors: Genome Aggregation Database Consortium
Source: BioRxiv : the preprint server for biology [bioRxiv] 2024 Jun 13. Date of Electronic Publication: 2024 Jun 13.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Gudmundsson+S%22">Gudmundsson S</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Singer-Berk+M%22">Singer-Berk M</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Stenton+SL%22">Stenton SL</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Goodrich+JK%22">Goodrich JK</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Wilson+MW%22">Wilson MW</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Einson+J%22">Einson J</searchLink>; New York Genome Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Watts+NA%22">Watts NA</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Lappalainen+T%22">Lappalainen T</searchLink>; Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden.; New York Genome Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Rehm+HL%22">Rehm HL</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22MacArthur+DG%22">MacArthur DG</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; 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, Australia.<br /><searchLink fieldCode="AU" term="%22O'Donnell-Luria+A%22">O'Donnell-Luria A</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
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