Article
Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2016
Song Wei, Gardner Sabrina A, Hovhannisyan Hayk, Natalizio Amanda, Weymouth Katelyn S, Chen Wenjie, Thibodeau Ildiko, Bogdanova Ekaterina, Letovsky Stanley, Willis Alecia, Nagan Narasimhan
Abstract excerpt
PURPOSE: We evaluated the Exome Aggregation Consortium (ExAC) database as a control cohort to classify variants across a diverse set of genes spanning dominant and recessively inherited disorders. METHODS: The frequency of pathogenic variants in ExAC was compared with the estimated maximal pathogenic allele frequency (MPAF), based on the disease prevalence, penetrance, inheritance, allelic and locus heterogeneity...
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