A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

Genetics in Medicine

Volumn 18, Issue 12, 2016, Pages 1258-1268

  Hunter, Jessica Ezzell ^a   Irving, Stephanie A ^a   Biesecker, Leslie G ^b   Buchanan, Adam ^c   Jensen, Brian ^d   Lee, Kristy ^d   Martin, Christa Lese ^c   Milko, Laura ^d   Muessig, Kristin ^a   Niehaus, Annie D ^b   O'Daniel, Julianne ^d   Piper, Margaret A ^a   Ramos, Erin M ^b   Schully, Sheri D ^e   Scott, Alan F ^f   Slavotinek, Anne ^g   Sobreira, Nara ^f   Strande, Natasha ^d   Weaver, Meredith ^h   Webber, Elizabeth M ^a   Williams, Marc S ^c   Berg, Jonathan S ^d   Evans, James P ^d   Goddard, Katrina A B ^a   more..

^a CENTER FOR HEALTH RESEARCH   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c GEISINGER HEALTH SYSTEM   (United States)

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

^e NATIONAL INSTITUTES OF HEALTH   (United States)

^f JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h American College of Medical Genetics   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLEGE; GENETIC PREDISPOSITION; GENOME; GENOMICS; HUMAN; MEDICAL GENETICS; PERSONALIZED MEDICINE; QUANTITATIVE STUDY; EXOME; GENETIC DISEASES, INBORN; GENETIC SCREENING; GENETIC VARIATION; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; PATHOLOGY;

EXOME; GENETIC DISEASES, INBORN; GENETIC TESTING; GENETIC VARIATION; GENOME, HUMAN; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; PRECISION MEDICINE;

EID: 85000578287     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.40     Document Type: Article

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