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.

Public Health Relevance

Whole-genome and exome sequencing, as well as sequence?based clinical diagnostics are increasingly uncovering rare and novel variants that may or may not impact patient health. The overarching goal of this proposal is to produce a single deliverable: VAAST+, which will provide basic researchers, clinical diagnostics laboratories and clinical geneticists with the means to rapidly identify and characterize disease-causing variants;thus bringing sequence data one step closer to the bed-side. VAAST+ will do so by providing innovative solutions to the three principal bottlenecks in healthcare-focused genome analyses today: variant prioritization, risk assessment, and disease-gene finding.

National Institute of Health (NIH)
National Institute of General Medical Sciences (NIGMS)
Research Project (R01)
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Study Section
Special Emphasis Panel (ZGM1-GDB-7 (CP))
Program Officer
Krasnewich, Donna M
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University of Utah
Schools of Medicine
Salt Lake City
United States
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