New informatics software helps identify rare genetic variants

A network of molecules and atoms of glass and crystals constitute a single system. 3D illustration

A team of researchers at Indiana University School of Medicine has developed specialized bioinformatics software designed to identify rare genetic variants in whole-genome sequencing studies. Zilin Li, Ph.D., assistant professor of biostatistics and health data science, was the first and co-corresponding author of the recent publication in Nature Methods which details the variant-Set Test for Association using Annotation infoRmation pipeline (or STAARpipeline) framework.

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