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The scalable variant call representation: enabling genetic analysis beyond one million genomes.

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Title: The scalable variant call representation: enabling genetic analysis beyond one million genomes.
Authors: Poterba T; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Vittal C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., King D; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Goldstein D; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Goldstein JI; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Schultz P; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Karczewski KJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Seed C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Neale BM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.
Source: Bioinformatics (Oxford, England) [Bioinformatics] 2024 Dec 26; Vol. 41 (1).
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9808944 Publication Model: Print Cited Medium: Internet ISSN: 1367-4811 (Electronic) Linking ISSN: 13674803 NLM ISO Abbreviation: Bioinformatics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Poterba+T%22">Poterba T</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Vittal+C%22">Vittal C</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22King+D%22">King D</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Goldstein+D%22">Goldstein D</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Goldstein+JI%22">Goldstein JI</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Schultz+P%22">Schultz P</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Karczewski+KJ%22">Karczewski KJ</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Seed+C%22">Seed C</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Neale+BM%22">Neale BM</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.
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