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

Volumn 19, Issue 2, 2017, Pages 249-255

  Kalia, Sarah S ^a   Adelman, Kathy ^b   Bale, Sherri J ^c   Chung, Wendy K ^d   Eng, Christine ^e   Evans, James P ^f   Herman, Gail E ^g   Hufnagel, Sophia B ^h   Klein, Teri E ⁱ   Korf, Bruce R ^j   McKelvey, Kent D ^k,l   Ormond, Kelly E ⁱ   Richards, C Sue ^m   Vlangos, Christopher N ⁿ   Watson, Michael ^o   Martin, Christa L ^p   Miller, David T ^q  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b Patient advocate   (United States)

^c GENEDX   (United States)

^d Howard Hughes Medical Institute   (United States)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^g OHIO STATE UNIVERSITY   (United States)

^h CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

ⁱ STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^k UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^l UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^m OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

ⁿ VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^o American College of Medical Genetics   (United States)

^p GEISINGER HEALTH SYSTEM   (United States)

^q BOSTON CHILDREN S HOSPITAL   (United States)

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Author keywords

Exome sequencing; Genetic testing; Genome sequencing; Incidental fndings; Secondary fndings

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; SMAD4 PROTEIN; WILSON DISEASE PROTEIN;

ARTICLE; EXOME; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC RISK; GENETIC SCREENING; GENETIC TRAIT; GENOMICS; HUMAN; HUMAN GENOME; MEDICAL GENETICS; MORBIDITY; MORTALITY; ORNITHINE TRANSCARBAMYLASE DEFICIENCY; PHENOTYPE; SANGER SEQUENCING; GENETICS; STANDARDS; WHOLE EXOME SEQUENCING;

EXOME; GENETIC TESTING; GENETICS, MEDICAL; GENOME, HUMAN; GENOMICS; HUMANS; WHOLE EXOME SEQUENCING;

EID: 85011835129     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.190     Document Type: Article

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