Exploring the landscape of pathogenic genetic variation in the ExAC population database: Insights of relevance to variant classification

Genetics in Medicine

Volumn 18, Issue 8, 2016, Pages 850-854

  Song, Wei ^a   Gardner, Sabrina A ^a   Hovhannisyan, Hayk ^a   Natalizio, Amanda ^a   Weymouth, Katelyn S ^a   Chen, Wenjie ^a   Thibodeau, Ildiko ^a   Bogdanova, Ekaterina ^a   Letovsky, Stanley ^a   Willis, Alecia ^a   Nagan, Narasimhan ^a  

^a LABORATORY CORPORATION OF AMERICA   (United States)

Author keywords

clinical testing; databases; genetic testing; population genetics; variant classification

Indexed keywords

ARTICLE; CLASSIFICATION; ETHNICITY; GENE FREQUENCY; GENE LOCUS; GENETIC DATABASE; GENETIC HETEROGENEITY; GENETIC VARIATION; HEART DISEASE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; INHERITANCE; MUTATIONAL ANALYSIS; PENETRANCE; PREVALENCE; PSEUDOGENE; COMPARATIVE STUDY; ETHNIC GROUP; EXOME; GENETIC PREDISPOSITION; GENETICS;

DATABASES, GENETIC; ETHNIC GROUPS; EXOME; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS;

EID: 84981287976     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.180     Document Type: Article

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