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.

Agency
National Institute of Health (NIH)
Institute
National Institute of General Medical Sciences (NIGMS)
Type
Research Project (R01)
Project #
5R01GM104390-02
Application #
8721455
Study Section
Special Emphasis Panel (ZGM1)
Program Officer
Krasnewich, Donna M
Project Start
2013-09-01
Project End
2017-08-31
Budget Start
2014-09-01
Budget End
2015-08-31
Support Year
2
Fiscal Year
2014
Total Cost
Indirect Cost
Name
University of Utah
Department
Genetics
Type
Schools of Medicine
DUNS #
City
Salt Lake City
State
UT
Country
United States
Zip Code
84112
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