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New Biotechnology Data Have Been Reported by H. Hu and Co-Authors (A unified test of linkage analysis and rare-variant association for analysis of...

August 13, 2014



New Biotechnology Data Have Been Reported by H. Hu and Co-Authors (A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data)

By a News Reporter-Staff News Editor at Biotech Week -- Current study results on Technology have been published. According to news reporting out of Oakland, California, by NewsRx editors, research stated, "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."

Our news journalists obtained a quote from the research, "Here we present pedigree-VAAST (pVAAST), a disease-gene identification tool designed for high-throughput sequence data in pedigrees. pVAAST uses a sequence-based model to perform variant and gene-based linkage analysis. Linkage information is then combined with functional prediction and rare variant case-control association information in a unified statistical framework. pVAAST outperformed linkage and rare-variant association tests in simulations and identified disease-causing genes from whole-genome sequence data in three human pedigrees with dominant, recessive and de novo inheritance patterns."

According to the news editors, the research concluded: "The approach is robust to incomplete penetrance and locus heterogeneity and is applicable to a wide variety of genetic traits. pVAAST maintains high power across studies of monogenic, high-penetrance phenotypes in a single pedigree to highly polygenic, common phenotypes involving hundreds of pedigrees."

For more information on this research see: A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data. Nature Biotechnology, 2014;32(7):663-669,1504-99. Nature Biotechnology can be contacted at: Nature Publishing Group, 75 Varick St, 9TH Flr, New York, NY 10013-1917, USA. (Nature Publishing Group - www.nature.com/; Nature Biotechnology - www.nature.com/nbt/)

Our news journalists report that additional information may be obtained by contacting H. Hu, Omicia Inc, Oakland, CA, United States. Additional authors for this research include J.C. Roach, H. Coon, S.L. Guthery, K.V. Voelkerding, R.L. Margraf, J.D. Durtschi, S.V. Tavtigian, Shankaracharya, W. Wu, P. Scheet, S.G. Wang, J.C. Xing, G. Glusman, R. Hubley, H. Li, V. Garg, B. Moore, L. Hood, D.J. Galas and Sriv (see also Technology).

Keywords for this news article include: Oakland, California, Technology, United States, North and Central America

Our reports deliver fact-based news of research and discoveries from around the world. Copyright 2014, NewsRx LLC


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Source: Biotech Week


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