Article
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.
Nature biotechnology - 1 Jul 2014
Hu Hao, Roach Jared C, Coon Hilary, Guthery Stephen L, Voelkerding Karl V, Margraf Rebecca L, Durtschi Jacob D, Tavtigian Sean V, Shankaracharya, Wu Wilfred, Scheet Paul, Wang Shuoguo, Xing Jinchuan, Glusman Gustavo, Hubley Robert, Li Hong, Garg Vidu, Moore Barry, Hood Leroy, Galas David J, Srivastava Deepak, Reese Martin G, Jorde Lynn B, Yandell Mark, Huff Chad D
Abstract excerpt
High-throughput sequencing of related individuals has become an important tool for studying human disease. However, owing to technical complexity and lack of available tools, most pedigree-based sequencing studies rely on an ad hoc combination of suboptimal analyses. Here we present pedigree-VAAST (pVAAST), a disease-gene identification tool designed for high-throughput sequence data in pedigrees. pVAAST uses a...
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