Researchers develop new tool for better classification of inherited disease-causing variants

Researchers from Children’s Hospital of Philadelphia (CHOP), the Perelman School of Medicine at the University of Pennsylvania, and the National Cancer Institute (NCI) of the National Institutes of Health have developed a new tool that allows scientists to annotate variant data from large-scale studies with clinically-focused classifications for risk of childhood cancer and other diseases. This new tool brings older applications in line with current guidelines and is available for use—for free—in the research community. The tool was described in a paper recently published in the journal Bioinformatics.

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