Article
VAAST 2.0: improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix.
Genetic epidemiology - 1 Sept 2013
Hu Hao, Huff Chad D, Moore Barry, Flygare Steven, Reese Martin G, Yandell Mark
Abstract excerpt
The need for improved algorithmic support for variant prioritization and disease-gene identification in personal genomes data is widely acknowledged. We previously presented the Variant Annotation, Analysis, and Search Tool (VAAST), which employs an aggregative variant association test that combines both amino acid substitution (AAS) and allele frequencies. Here we describe and benchmark VAAST 2.0, which uses a...
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