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Updated: Apr 30, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Using VAAST to Identify Disease-Associated Variants in Next-Generation Sequencing Data.

Brett Kennedy1,2, Zev Kronenberg1,2, Hao Hu3,2

  • 1Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah.

Current Protocols in Human Genetics
|April 26, 2014
PubMed
Summary

This study details best practices for variant prioritization using the VAAST pipeline for next-generation sequencing data. It covers case-control, small pedigree, and large pedigree analyses for identifying disease-associated alleles.

Keywords:
VAASTbioinformaticscomputational genomicsdisease-gene identificationgenome-wide association studiesgenomicshuman diseasenext-generation sequencingrare-variant association testvariant classification

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