Abstract

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.

  Funding Agency

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

  Institution

Name
University of Utah
Department
Genetics
Type
Schools of Medicine
DUNS #
City
Salt Lake City
State
UT
Country
United States
Zip Code
84112

  Publications

Vickrey, Anna I; Bruders, Rebecca; Kronenberg, Zev et al. (2018) Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon. Elife 7:
Yu, Yao; Hu, Hao; Chen, Jiun-Sheng et al. (2018) Integrated case-control and somatic-germline interaction analyses of melanoma susceptibility genes. Biochim Biophys Acta Mol Basis Dis 1864:2247-2254
Flygare, Steven; Hernandez, Edgar Javier; Phan, Lon et al. (2018) The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool. BMC Bioinformatics 19:57
Yu, Yao; Hu, Hao; Bohlender, Ryan J et al. (2018) XPAT: a toolkit to conduct cross-platform association studies with heterogeneous sequencing datasets. Nucleic Acids Res 46:e32
Chen, Jiun-Sheng; Hu, Fulan; Kugathasan, Subra et al. (2018) Targeted Gene Sequencing in Children with Crohn's Disease and Their Parents: Implications for Missing Heritability. G3 (Bethesda) 8:2881-2888
Al-Agha, Abdulmoein Eid; Ahmed, Ihab Abdulhamed; Nuebel, Esther et al. (2018) Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation. J Clin Endocrinol Metab 103:555-563
Cone, Kelsey R; Kronenberg, Zev N; Yandell, Mark et al. (2017) Emergence of a Viral RNA Polymerase Variant during Gene Copy Number Amplification Promotes Rapid Evolution of Vaccinia Virus. J Virol 91:
Majoros, William H; Campbell, Michael S; Holt, Carson et al. (2017) High-throughput interpretation of gene structure changes in human and nonhuman resequencing data, using ACE. Bioinformatics 33:1437-1446
Feusier, Julie; Witherspoon, David J; Scott Watkins, W et al. (2017) Discovery of rare, diagnostic AluYb8/9 elements in diverse human populations. Mob DNA 8:9
Eilbeck, Karen; Quinlan, Aaron; Yandell, Mark (2017) Settling the score: variant prioritization and Mendelian disease. Nat Rev Genet 18:599-612

Showing the most recent 10 out of 38 publications