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Using VAAST to Identify Disease-Associated Variants in Next-Generation Sequencing Data.


ABSTRACT: The VAAST pipeline is specifically designed to identify disease-associated alleles in next-generation sequencing data. In the protocols presented in this paper, we outline the best practices for variant prioritization using VAAST. Examples and test data are provided for case-control, small pedigree, and large pedigree analyses. These protocols will teach users the fundamentals of VAAST, VAAST 2.0, and pVAAST analyses.

SUBMITTER: Kennedy B 

PROVIDER: S-EPMC4137768 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature

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Using VAAST to Identify Disease-Associated Variants in Next-Generation Sequencing Data.

Kennedy Brett B   Kronenberg Zev Z   Hu Hao H   Moore Barry B   Flygare Steven S   Reese Martin G MG   Jorde Lynn B LB   Yandell Mark M   Huff Chad C  

Current protocols in human genetics 20140424


The VAAST pipeline is specifically designed to identify disease-associated alleles in next-generation sequencing data. In the protocols presented in this paper, we outline the best practices for variant prioritization using VAAST. Examples and test data are provided for case-control, small pedigree, and large pedigree analyses. These protocols will teach users the fundamentals of VAAST, VAAST 2.0, and pVAAST analyses. ...[more]

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