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

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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...

Researchers develop new tool for better classification of inherited disease-causing variants retrieved 21 May 2024 from https://medicalxpress.com/news/2024-05-tool-classification-inherited-disease-variants.html

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