Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.

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Title: Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
Authors: Amendola LM; Department of Medicine, Division of Medical Genetics, University of Washington Medical Center, Seattle, WA 98195, USA. Electronic address: lauraa7@uw.edu., Muenzen K; Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA 98195, USA., Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Bowling KM; Hudson Alpha Institute for Biotechnology, Huntsville, AL 35806, USA., Cooper GM; Hudson Alpha Institute for Biotechnology, Huntsville, AL 35806, USA., Dorschner MO; Department of Medicine, Division of Medical Genetics, University of Washington Medical Center, Seattle, WA 98195, USA., Driscoll C; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Foreman AKM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Golden-Grant K; Department of Medicine, Division of Medical Genetics, University of Washington Medical Center, Seattle, WA 98195, USA., Greally JM; Albert Einstein College of Medicine, Bronx, NY 10461, USA., Hindorff L; Division of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Kanavy D; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Jobanputra V; New York Genome Center, New York, NY 10013, USA; Columbia University Medical Center, New York, NY 10032, USA., Johnston JJ; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Kenny EE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., McNulty S; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Murali P; Department of Medicine, Division of Medical Genetics, University of Washington Medical Center, Seattle, WA 98195, USA., Ou J; Department of Medicine, Division of Medical Genetics, University of Washington Medical Center, Seattle, WA 98195, USA., Powell BC; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Rehm HL; Massachusetts General Hospital and the Broad Institute of MIT and Harvard, Boston, MA 02142, USA., Rolf B; Department of Medicine, Division of Medical Genetics, University of Washington Medical Center, Seattle, WA 98195, USA., Roman TS; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Van Ziffle J; Department of Pathology, Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA., Guha S; New York Genome Center, New York, NY 10013, USA., Abhyankar A; New York Genome Center, New York, NY 10013, USA., Crosslin D; Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA 98195, USA., Venner E; Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Baylor Genetics, Houston, TX 77030, USA., Zouk H; Department of Pathology, Massachusetts General Hospital, Harvard Medical School and Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Boston, MA 02139, USA., Jarvik GP; Department of Medicine, Division of Medical Genetics, University of Washington Medical Center, Seattle, WA 98195, USA.
Corporate Authors: CSER Sequencing and Diagnostic Yield working group
Source: American journal of human genetics [Am J Hum Genet] 2020 Nov 05; Vol. 107 (5), pp. 932-941. Date of Electronic Publication: 2020 Oct 26.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1537-6605
DOI:10.1016/j.ajhg.2020.09.011