Pathogenic variant burden in the ExAC database: An empirical approach to evaluating population data for clinical variant interpretation

Genome Medicine

Volumn 9, Issue 1, 2017, Pages

  Kobayashi, Yuya ^a   Yang, Shan ^a   Nykamp, Keith ^a   Garcia, John ^a   Lincoln, Stephen E ^a   Topper, Scott E ^a  

^a Clinical Molecular Geneticist and Cytogeneticist Invitae Corportation   (United States)

Author keywords

ACMG ISV guidelines; Allele frequency threshold; ExAC; Variant interpretation

Indexed keywords

MESSENGER RNA;

ARTICLE; DATA ANALYSIS; GENE FREQUENCY; GENE MUTATION; GENETIC DATABASE; GENETIC SELECTION; GENETIC VARIABILITY; HUMAN; INHERITANCE; NONSENSE MEDIATED MRNA DECAY; PENETRANCE; POPULATION GENETICS; SEQUENCE ANALYSIS; TUMOR SUPPRESSOR GENE; DNA MUTATIONAL ANALYSIS; EXOME; GENETIC VARIATION; GENETICS; MUTATION; RARE DISEASES;

DATABASES, GENETIC; DNA MUTATIONAL ANALYSIS; EXOME; GENE FREQUENCY; GENETIC VARIATION; HUMANS; MUTATION; RARE DISEASES;

EID: 85011661599     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-017-0403-7     Document Type: Article

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