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

Genetics in Medicine - Tập 17 Số 5 - Trang 405-424 - 2015
Sue Richards1, Nazneen Aziz2,3, Sherri J. Bale4, David Bick5, Soma Das6, Julie M. Gastier‐Foster7,8,9, Wayne W. Grody10,11,12, Madhuri Hegde13, Elaine Lyon14, Elaine Spector15, Karl V. Voelkerding14, Heidi L. Rehm16
1Department of Molecular and Medical Genetics, Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, Oregon, USA
2College of American Pathologists, Chicago, Illinois, USA
3Current affiliation: Phoenix Children’s Hospital, Phoenix, Arizona, USA
4GeneDx, Gaithersburg, Maryland, USA
5Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA
6Department of Human Genetics, Clinical Molecular Genetics Laboratory, The University of Chicago, Chicago, Illinois, USA
7Cytogenetics/Molecular Genetics Laboratory, Nationwide Children’s Hospital, Columbus, Ohio, USA
8Department of Pathology, Ohio State University College of Medicine, Columbus, Ohio, USA
9Department of Pediatrics, Ohio State University College of Medicine, Columbus, Ohio USA
10Department of Human Genetics, University of California, Los Angeles, School of Medicine, Los Angeles, California, USA
11Department of Pathology and Laboratory Medicine, University of California, Los Angeles, School of Medicine, Los Angeles, California, USA
12Department of Pediatrics, University of California, Los Angeles, School of Medicine, Los Angeles, California, USA
13Department of Human Genetics, Emory Genetics Laboratory, Emory University, Atlanta, Georgia, USA
14Department of Pathology, ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah, USA
15Department of Pediatrics, Molecular Genetics Laboratory, Children’s Hospital Colorado, University of Colorado Anschutz Medical School, Denver, Colorado, USA
16Partners Laboratory for Molecular Medicine and Department of Pathology, Brigham & Women’s Hospital and Harvard Medical School, Boston, Massachusetts, USA

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Tài liệu tham khảo

Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee

IARC Unclassified Genetic Variants Working Group

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Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee

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Genetics in Medicine

Tập 17 Số 5

405-424

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