The overarching goal of this proposal is to produce a single deliverable: VAAST+, which will provide innovative and improved solutions for three major bottlenecks in analyses of personal genomes data: variant prioritization, risk assessment and disease-gene finding. Better variant prioritization and risk assessment will aid diagnostic laboratories and clinicians seeking to interpret the impact of rare variants discovered in the course of routine genetic testing;whereas a better tool for disease-gene finding will empower researchers seeking to employ whole-genome and exome sequences to identify novel genes and disease-causing alleles responsible for rare and common diseases. VAAST+ will leverage the VAAST platform, which was developed with support from an NHGRI Grand Opportunity Grant entitled Tool for annotation and analyses of human whole-genome sequence variation data. Doing so will allow us to rapidly implement VAAST+ and distribute it to the research community.

National Institute of Health (NIH)
National Institute of General Medical Sciences (NIGMS)
Research Project (R01)
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Application #
Study Section
Special Emphasis Panel (ZGM1)
Program Officer
Krasnewich, Donna M
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University of Utah
Schools of Medicine
Salt Lake City
United States
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