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Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects.

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Title: Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects.
Authors: Regier AA; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, 63108, MO, USA., Farjoun Y; Broad Institute of MIT and Harvard, Cambridge, 02142, MA, USA., Larson DE; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, 63108, MO, USA., Krasheninina O; Human Genome Sequencing Center, Baylor College of Medicine, Houston, 77030, TX, USA., Kang HM; Department of Biostatistics, University of Michigan, Ann Arbor, 48109, MI, USA., Howrigan DP; Broad Institute of MIT and Harvard, Cambridge, 02142, MA, USA., Chen BJ; New York Genome Center, New York, 10013, NY, USA.; Google, New York, 10011, NY, USA., Kher M; New York Genome Center, New York, 10013, NY, USA., Banks E; Broad Institute of MIT and Harvard, Cambridge, 02142, MA, USA., Ames DC; DNAnexus Inc, Mountain View, 94040, CA, USA., English AC; Spiral Genetics, Seattle, 98104, WA, USA., Li H; Broad Institute of MIT and Harvard, Cambridge, 02142, MA, USA., Xing J; Department of Genetics, Rutgers University, Piscataway, 08854, NJ, USA., Zhang Y; Department of Genetics, Rutgers University, Piscataway, 08854, NJ, USA., Matise T; Department of Genetics, Rutgers University, Piscataway, 08854, NJ, USA., Abecasis GR; Department of Biostatistics, University of Michigan, Ann Arbor, 48109, MI, USA., Salerno W; Human Genome Sequencing Center, Baylor College of Medicine, Houston, 77030, TX, USA., Zody MC; New York Genome Center, New York, 10013, NY, USA., Neale BM; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, 02142, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, 02114, MA, USA., Hall IM; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, 63108, MO, USA. ihall@wustl.edu.
Source: Nature communications [Nat Commun] 2018 Oct 02; Vol. 9 (1), pp. 4038. Date of Electronic Publication: 2018 Oct 02.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Validation Study
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Regier+AA%22">Regier AA</searchLink>; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, 63108, MO, USA.<br /><searchLink fieldCode="AU" term="%22Farjoun+Y%22">Farjoun Y</searchLink>; Broad Institute of MIT and Harvard, Cambridge, 02142, MA, USA.<br /><searchLink fieldCode="AU" term="%22Larson+DE%22">Larson DE</searchLink>; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, 63108, MO, USA.<br /><searchLink fieldCode="AU" term="%22Krasheninina+O%22">Krasheninina O</searchLink>; Human Genome Sequencing Center, Baylor College of Medicine, Houston, 77030, TX, USA.<br /><searchLink fieldCode="AU" term="%22Kang+HM%22">Kang HM</searchLink>; Department of Biostatistics, University of Michigan, Ann Arbor, 48109, MI, USA.<br /><searchLink fieldCode="AU" term="%22Howrigan+DP%22">Howrigan DP</searchLink>; Broad Institute of MIT and Harvard, Cambridge, 02142, MA, USA.<br /><searchLink fieldCode="AU" term="%22Chen+BJ%22">Chen BJ</searchLink>; New York Genome Center, New York, 10013, NY, USA.; Google, New York, 10011, NY, USA.<br /><searchLink fieldCode="AU" term="%22Kher+M%22">Kher M</searchLink>; New York Genome Center, New York, 10013, NY, USA.<br /><searchLink fieldCode="AU" term="%22Banks+E%22">Banks E</searchLink>; Broad Institute of MIT and Harvard, Cambridge, 02142, MA, USA.<br /><searchLink fieldCode="AU" term="%22Ames+DC%22">Ames DC</searchLink>; DNAnexus Inc, Mountain View, 94040, CA, USA.<br /><searchLink fieldCode="AU" term="%22English+AC%22">English AC</searchLink>; Spiral Genetics, Seattle, 98104, WA, USA.<br /><searchLink fieldCode="AU" term="%22Li+H%22">Li H</searchLink>; Broad Institute of MIT and Harvard, Cambridge, 02142, MA, USA.<br /><searchLink fieldCode="AU" term="%22Xing+J%22">Xing J</searchLink>; Department of Genetics, Rutgers University, Piscataway, 08854, NJ, USA.<br /><searchLink fieldCode="AU" term="%22Zhang+Y%22">Zhang Y</searchLink>; Department of Genetics, Rutgers University, Piscataway, 08854, NJ, USA.<br /><searchLink fieldCode="AU" term="%22Matise+T%22">Matise T</searchLink>; Department of Genetics, Rutgers University, Piscataway, 08854, NJ, USA.<br /><searchLink fieldCode="AU" term="%22Abecasis+GR%22">Abecasis GR</searchLink>; Department of Biostatistics, University of Michigan, Ann Arbor, 48109, MI, USA.<br /><searchLink fieldCode="AU" term="%22Salerno+W%22">Salerno W</searchLink>; Human Genome Sequencing Center, Baylor College of Medicine, Houston, 77030, TX, USA.<br /><searchLink fieldCode="AU" term="%22Zody+MC%22">Zody MC</searchLink>; New York Genome Center, New York, 10013, NY, USA.<br /><searchLink fieldCode="AU" term="%22Neale+BM%22">Neale BM</searchLink>; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, 02142, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, 02114, MA, USA.<br /><searchLink fieldCode="AU" term="%22Hall+IM%22">Hall IM</searchLink>; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, 63108, MO, USA. ihall@wustl.edu.
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