Article
A probabilistic disease-gene finder for personal genomes.
Genome research - 1 Sept 2011
Yandell Mark, Huff Chad, Hu Hao, Singleton Marc, Moore Barry, Xing Jinchuan, Jorde Lynn B, Reese Martin G
Abstract excerpt
VAAST (the Variant Annotation, Analysis & Search Tool) is a probabilistic search tool for identifying damaged genes and their disease-causing variants in personal genome sequences. VAAST builds on existing amino acid substitution (AAS) and aggregative approaches to variant prioritization, combining elements of both into a single unified likelihood framework that allows users to identify damaged genes and...
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