Variant Annotation, Analysis and Search Tool (VAAST)

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VAASTVAAST (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.

Related Publications

Singleton, Marc V.; Guthery, Stephen L.; Voelkerding, Karl V.; Chen, Karin; Kennedy, Brett; Margraf, Rebecca L.; Durtschi, Jacob; Eilbeck, Karen; Reese, Martin G.; Jorde, Lynn B.; Huff, Chad D.; Yandell, Mark

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families Journal Article

In: The American Journal of Human Genetics, 94 (4), pp. 599 - 610, 2014, ISSN: 0002-9297.

Abstract | Links | BibTeX

Kennedy, Brett; Kronenberg, Zev; Hu, Hao; Moore, Barry; Flygare, Steven; Reese, Martin G; Jorde, Lynn B; Yandell, Mark; Huff, Chad

Using VAAST to Identify Disease‐Associated Variants in Next‐Generation Sequencing Data Journal Article

In: Current Protocols in Human Genetics, 2014.

Abstract | Links | BibTeX

Hu, Hao; Huff, Chad D; Moore, Barry ; Flygare, Steven ; Reese, Martin G; Yandell, Mark

VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix Journal Article

In: Genetic Epidemiology, 2013.

Abstract | Links | BibTeX

Yandell, Mark; Huff, Chad D; Hu, Hao; Singleton, Marc; Moore, Barry; Xing, Jinchuan; Jorde, Lynn B; Reese, Martin G

A probabilistic disease-gene finder for personal genomes. Journal Article

In: Genome research, 21 (9), pp. 1529–1542, 2011, ISSN: 1549-5469.

Abstract | Links | BibTeX

Rope, Alan F; Wang, Kai; Evjenth, Rune; Xing, Jinchuan; Johnston, Jennifer J; Swensen, Jeffrey J; Johnson, Evan W; Moore, Barry; Huff, Chad D; Bird, Lynne M; Carey, John C; Opitz, John M; Stevens, Cathy A; Jiang, Tao; Schank, Christa; Fain, Heidi Deborah D; Robison, Reid; Dalley, Brian; Chin, Steven; South, Sarah T; Pysher, Theodore J; Jorde, Lynn B; Hakonarson, Hakon; Lillehaug, Johan R; Biesecker, Leslie G; Yandell, Mark; Thoma,

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Journal Article

In: American journal of human genetics, 89 (1), pp. 28–43, 2011, ISSN: 1537-6605.

Abstract | Links | BibTeX

Press Coverage

Licensing and Download

VAAST was developed as a collaboration between the Yandell Lab at the University of Utah and Omicia, Inc. of Emeryville, CA. The University of Utah freely licenses VAAST for academic research use. For commercial, clinical and all other uses, please contact Martin Reese of Omicia, Inc.

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