Entries with tag genetic mutations.

Researchers Create Genetic Mutation Search Tool

A group of researchers has created a software search tool that helps identify genetic mutations in humans, which could let scientists more accurately determine both their source and their possible health effects. Mutations within the human genome are common and most do not affect human health, although some are associated with diseases. A team of researchers from Arizona State University, Washington University School of Medicine in St. Louis, and the Wellcome Trust Sanger Institute developed the DeNovoGear tool for this detective work. It uses statistical probabilities to find mutations based on high-throughput genetic sequencing. The scientists also created an algorithm able to evaluate the probability of mutation at each site in a genome by comparing it to actual gene-sequencing data. They say the improved accuracy of mutation identification and validation could greatly assist researchers in the diagnosis and treatment of mutation-related diseases. The researchers say they plan to continue refining their software. They published their work in the journal Nature Methods. (EurekAlert)(Arizona State University @ EurekAlert)
 

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