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New software tool identifies genetic mutations that influence disease risk
Date:5/30/2014

HOUSTON-Researchers at The University of Texas MD Anderson Cancer Center and other institutions have applied a newly developed software tool to identify genetic mutations that contribute to a person's increased risk for developing common, complex diseases, such as cancer. The research is published in the May 2014 edition of the journal Nature Biotechnology.

The technology, known as pVAAST (pedigree Variant Annotation, Analysis and Search Tool), combines two different statistical methods used for identifying disease-causing gene mutations. This combination approach outperforms individual familial analysis methods by increasing power or speed in which mutations are identified, and reducing complications through study design and analysis.

"This method allows for faster, more efficient identification and validation of genetic variants that influence disease risk," Chad Huff, Ph.D., professor of Epidemiology at MD Anderson. "This will eventually enable clinical labs to design genetic tests that provide better predictions of a person's individual risk of developing cancer."

The pVAAST tool combines two commonly used disease-gene identification methods, linkage analysis and association tests. Linkage analysis tracks the inheritance of genetic mutations in families to identify possible causal mutations. Association tests compare unrelated individuals with a specific disease to healthy individuals in search of a common mutation in one group or the other.

"Linkage analysis and association tests were initially designed for sparse genetic markers available from earlier genotyping techniques," said lead author of the study, Hao Hu, Ph.D., a postdoctoral fellow of Epidemiology at MD Anderson. "pVAAST integrates these two methods and repurposes them for next-generation DNA sequencing data, which is the state-of-art technique for genetics research. It fills in a genuine gap between molecular techniques and computational tools in
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Contact: Katrina Burton
kburton@mdanderson.org
713-792-8034
University of Texas M. D. Anderson Cancer Center
Source:Eurekalert  

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