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A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

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作者单位: Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA. [1] Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts, USA. [2] Division of Medical Genetics, University of Washington, Seattle, Washington, USA. [3] GeneDx, Inc., Gaithersburg, Maryland, USA. [4] Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA. [5] HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA. [6] Ambry Genetics, Aliso Viejo, California, USA. [7] Division of Genetics and Genomics, Department of Pediatrics, University of California, Irvine, California, USA. [8] Department of Pediatrics, Columbia University, New York, New York, USA. [9] Department of Medicine, Columbia University, New York, New York, USA. [10] Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania, USA. [11] Department of Human Genetics, University of Chicago, Chicago, Illinois, USA. [12] Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA. [13] Department of Genome Sciences, University of Washington, Seattle, Washington, USA. [14] Department of Medical Oncology, Dana Farber Cancer Institute, Boston, Massachusetts, USA. [15] Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon, USA. [16] Department of Internal Medicine, Center for Bioethics Social Science and Medicine, University of Michigan, Ann Arbor, Michigan, USA. [17] Illumina, Inc., San Diego, California, USA. [18] Emory Genetics Laboratory, Department of Human Genetics, Emory University, Atlanta, Georgia, USA. [19] Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, Maryland, USA. [20] Division of Genetics and Genomics and Manton Center for Orphan Diseases Research, Boston Children's Hospital, Boston, Massachusetts, USA. [21] Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA. [22] Personalis, Inc., Menlo Park, California, USA. [23] Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA. [24] Department of Molecular and Medical Genetics, Oregon Health &Science University, Portland, Oregon, USA. [25] Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA. [26] Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA. [27] Consortium on Law and Values in Health, Environment &the Life Sciences, Law School, Medical School, University of Minnesota, Minneapolis, Minnesota, USA. [28] Department of Molecular and Human Genetics, Baylor College of Medicine and Baylor Miraca Genetics Laboratories, Houston, Texas, USA. [29] The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. [30] Department of Pathology, Brigham &Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA. [31]
DOI 10.1038/gim.2016.152
PMID 27811861
发布时间 2022-02-10
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Genetics in medicine : official journal of the American College of Medical Genetics

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