A probabilistic disease-gene finder for personal genomes.

  title={A probabilistic disease-gene finder for personal genomes.},
  author={Mark Yandell and Chad D. Huff and Hao Hu and Marc Singleton and Barry Moore and Jinchuan Xing and Lynn Jorde and Martin G. Reese},
  journal={Genome research},
  volume={21 9},
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 deleterious variants with greater accuracy, and in an easy-to-use fashion. VAAST can score… CONTINUE READING
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