Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

Genetics in Medicine - Tập 19 Số 2 - Trang 249-255 - 2017
Sarah S. Kalia1, Kathy Adelman2, Sherri J. Bale3, Wendy K. Chung4,5, Christine M. Eng6, James P. Evans7, Gail E. Herman8, Sophia B. Hufnagel9, Teri E. Klein10, Bruce R. Korf11, Kent D. McKelvey12,13, Kelly E. Ormond10, C. Sue Richards14, Christopher N. Vlangos15, Michael S. Watson16, Christa Lese Martin17, David T. Miller18
1Division of Genetics, Brigham and Women’s Hospital, Boston, Massachusetts, USA
2Patient advocate, Livermore, California, USA
3GeneDx Inc., Gaithersburg, Maryland, USA
4Department of Medicine, Columbia University, New York, New York USA
5Department of Pediatrics, Columbia University, New York, New York, USA
6Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
7Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA;
8Institute for Genomic Medicine, Nationwide Children’s Hospital and Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA
9Division of Genetics and Metabolism, Children’s National Health System, Washington, DC, USA
10Department of Genetics, Stanford University School of Medicine Palo Alto, California, USA
11Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA
12Department of Family Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA
13Department of Genetics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA
14Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA
15Department of Pathology, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA
16American College of Medical Genetics and Genomics, Bethesda, Maryland, USA.
17Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, Pennsylvania, USA
18Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts, USA.

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