Using ClinVar as a resource to support variant interpretation

Current Protocols in Human Genetics

Volumn 2016, Issue , 2016, Pages 8.16.1-8.16.23

  Harrison, Steven M ^a,b   Riggs, Erin R ^c   Maglott, Donna R ^d   Lee, Jennifer M ^d   Azzariti, Danielle R ^a   Niehaus, Annie ^e   Ramos, Erin M ^e   Martin, Christa L ^c   Landrum, Melissa J ^d   Rehm, Heidi L ^a,b  

^a LABORATORY FOR MOLECULAR MEDICINE   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c GEISINGER HEALTH SYSTEM   (United States)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

^e NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Clinical genetics; ClinVar; Data sharing; Databases; Variant interpretation

Indexed keywords

ARTICLE; CLINICAL PROTOCOL; CLINVAR DATABASE; COMPUTER ANALYSIS; GENE SEQUENCE; GENETIC DATABASE; GENETIC VARIABILITY; INFORMATION PROCESSING; ONLINE ANALYSIS; PRACTICE GUIDELINE; PRIORITY JOURNAL; SOFTWARE; GENETIC VARIATION; HUMAN; HUMAN GENOME;

DATABASES, GENETIC; GENETIC VARIATION; GENOME, HUMAN; HUMANS;

EID: 84992548626     PISSN: 19348266     EISSN: 19348258     Source Type: Journal    
DOI: 10.1002/0471142905.hg0816s89     Document Type: Article

References (7)

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