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. |
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| 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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| ISSN: | 1367-4811 |
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| DOI: | 10.1093/bioinformatics/btae746 |
