Using three different software technologies including pVAAST and VAAST, developed at the USTAR Center for Genetic Discovery at the University of Utah, investigators discovered a mutation in one gene, POLR2C, linked to a higher risk of premature menopause.
The USTAR Center for Genetic Discovery has used the FastQForward pipeline to analyze over a thousand human genome sequences in collaboration with projects like the Utah Genome Project and the Utah Pediatric Cardiac Genomics Consortium.
Read about how USTAR’s computational geneticists are developing software to help identify genetic mutations.
USTAR’s VAAST (Variant Annotation, Analysis and Search Tool) is spotlighted at a week long hackathon.
Read the press release on the USTAR/Innovation Utah website.
