VAAST 2.0 – Identify Damaged Genes and Disease-causing Variants in Personal Genome Sequences



VAAST (the Variant Annotation, Analysis and Search Tool) is a probabilistic search tool for identifying damaged genes and their disease-causing variants in personal genome sequences. VAAST builds upon 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 both coding and non-coding variants, evaluating the cumulative impact of both types of variants simultaneously. VAAST can identify rare variants causing rare genetic diseases, and it can also use both rare and common variants to identify genes responsible for common diseases. VAAST thus has a much greater scope of use than any existing methodology.


Yandell Lab




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VAAST 2.0: improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix
Hu H Huff CD Moore B Flygare S Reese MG Yandell M
Genet Epidemiol. 2013 37(6):622-34.

A probabilistic disease-gene finder for personal genomes
Yandell M Huff CD Hu H Singleton M Moore B Xing J Jorde L Reese MG
Genome Res. 2011 doi:10.1101/gr.123158.111

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