pVAAST Finds Disease-Causing Variants that Run in Families

Scientists at the USTAR Center for Genetic Discovery at the Unviersity of Utah, the University of Texas MD Anderson Cancer Center in Houston, and colleagues, have developed a powerful tool called pVAAST that combines linkage analysis with case control association to help researchers and clinicians identify disease-causing mutations in families faster and more precisely than ever before.

pVAAST was designed to search the sequenced genomes of families to find shared mutations and thus identify the gene with the highest probability of causing disease. “The issue with whole genome sequences has been that sequencing one person’s genome to find a single disease-causing gene is difficult,” said Center for Genetic Discovery co-director, Mark Yandell, Ph.D. “If you can sequence the whole family it gives a fuller picture of the sequence and variations potentially involved in disease.”

The tool identified mutations in two families with separate diseases, and a de novo or new variation in a 12-year-old who was the only one in the family to suffer from a mysterious and life threatening intestinal problem.

pVAAST is a specialized iteration of VAAST, a disease discovery algorithm disigned by Yandell that is already in use by scientists worldwide.

Read more about the study, published in Nature Biotechnology.

Searching Genomes Of Families To Find Shared Mutations