Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue RichardsDepartment of Molecular and Medical Genetics, Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, Oregon, USANazneen Aziz1] College of American Pathologists, Chicago, Illinois, USA [2] Current affiliation: Phoenix Children's Hospital, Phoenix, Arizona, USASherri J. BaleDavid BickDepartment of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, USASoma DasDepartment of Human Genetics, Clinical Molecular Genetics Laboratory, The University of Chicago, Chicago, Illinois, USAJulie M. Gastier‐Foster1] Cytogenetics/Molecular Genetics Laboratory, Nationwide Children's Hospital, Columbus, Ohio, USA [2] Department of Pathology, Ohio State University College of Medicine, Columbus, Ohio, USA [3] Department of Pediatrics, Ohio State University College of Medicine, Columbus, Ohio, USAWayne W. Grody1] Department of Pathology and Laboratory Medicine, University of California Los Angeles School of Medicine, Los Angeles, California, USA [2] Department of Pediatrics, University of California Los Angeles School of Medicine, Los Angeles, California, USA [3] Department of Human Genetics, University of California Los Angeles School of Medicine, Los Angeles, California, USAMadhuri HegdeDepartment of Human Genetics, Emory Genetics Laboratory, Emory University, Atlanta, Georgia, USAElaine LyonDepartment of Pathology, ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah, USAElaine SpectorDepartment of Pediatrics, Molecular Genetics Laboratory, Children's Hospital Colorado, University of Colorado Anschutz Medical School, Denver, Colorado, USAKarl V. VoelkerdingDepartment of Pathology, ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah, USAHeidi L. RehmPartners Laboratory for Molecular Medicine and Department of Pathology, Brigham & Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA
2015en
ABI
Аннотация
Аннотация отсутствует.
Идентификаторы
Цитирования и источники
Цитирований: 6Использованных источников: 0