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. |
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| 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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| ISSN: | 2041-1723 |
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| DOI: | 10.1038/s41467-018-06159-4 |
