Article
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
Genome medicine - 6 Feb 2017
Kobayashi Yuya, Yang Shan, Nykamp Keith, Garcia John, Lincoln Stephen E, Topper Scott E
Abstract excerpt
BACKGROUND: The frequency of a variant in the general population is a key criterion used in the clinical interpretation of sequence variants. With certain exceptions, such as founder mutations, the rarity of a variant is a prerequisite for pathogenicity. However, defining the threshold at which a variant should be considered "too common" is challenging and therefore diagnostic laboratories have typically set...
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