VAAST
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Application data |
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| Biological application domain(s) | Structural variation |
|---|---|
| Principal bioinformatics method(s) | Variant prioritisation |
| Technology | Any |
| Created at | University of Utah, Omicia Inc. |
| Maintained? | Yes |
| Input format(s) | FASTA, GFF3, GVF |
| Licence | Commercial, Freeware |
| Contact: | myandell@genetics.utah.edu |
Summary: Variant Annotation, Analysis and Search Tool
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Description
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 prioritisation, 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.
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