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.
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.
|Gordon, David; Huddleston, John; Chaisson, Mark J P et al. (2016) Long-read sequence assembly of the gorilla genome. Science 352:aae0344|
|Staples, Jeffrey; Witherspoon, David J; Jorde, Lynn B et al. (2016) PADRE: Pedigree-Aware Distant-Relationship Estimation. Am J Hum Genet 99:154-62|
|Domyan, Eric T; Kronenberg, Zev; Infante, Carlos R et al. (2016) Molecular shifts in limb identity underlie development of feathered feet in two domestic avian species. Elife 5:e12115|
|Hu, Hao; Coon, Hilary; Li, Man et al. (2016) VARPRISM: incorporating variant prioritization in tests of de novo mutation association. Genome Med 8:91|
|Bowles, Neil E; Jou, Chuanchau J; Arrington, Cammon B et al. (2015) Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus. Am J Med Genet A 167A:2975-84|
|Kronenberg, Zev N; Osborne, Edward J; Cone, Kelsey R et al. (2015) Wham: Identifying Structural Variants of Biological Consequence. PLoS Comput Biol 11:e1004572|
|1000 Genomes Project Consortium; Auton, Adam; Brooks, Lisa D et al. (2015) A global reference for human genetic variation. Nature 526:68-74|
|Wu, Wilfred; Witherspoon, David J; Fraser, Alison et al. (2015) The heritability of gestational age in a two-million member cohort: implications for spontaneous preterm birth. Hum Genet 134:803-8|
|Nash, Dustin; Arrington, Cammon B; Kennedy, Brett J et al. (2015) Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR). PLoS One 10:e0131514|
|Brown, Eric L; Below, Jennifer E; Fischer, Rebecca S B et al. (2015) Genome-Wide Association Study of Staphylococcus aureus Carriage in a Community-Based Sample of Mexican-Americans in Starr County, Texas. PLoS One 10:e0142130|
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