New informatics software helps identify rare genetic variants

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.