Fabric’s robust variant classification software relies on publicly available algorithms and also our proprietary algorithms such as VAAST (The Variant Annotation, Analysis & Search Tool) and Phevor (Phenotype Driven Variant Ontological Re-ranking tool), which were co-developed by the University of Utah and Fabric Genomics. VAAST is a probabilistic search tool for identifying damaged genes and their disease-causing variants, and Phevor integrates phenotype, gene function and disease information to identify disease-causing alleles. VAAST has a much greater scope than any existing methodology because of its ability to prioritize candidate disease genes in sets of unrelated, affected genome sequences. The VAAST algorithm helped scientists at the University of Utah discover Ogden Syndrome in 2011, and this story was featured in Forbes. A family of Ogden, Utah, had watched five of their children in two generations, die from a mysterious disease. Thanks to advances in DNA sequencing and in variant identification algorithms, scientists were able to find the gene behind this disease in just sixteen months. Ogden Syndrome was one of the first syndromes identified through next generation sequencing.
“What we want to be able to do is help the kid who is born with a hard-to-diagnose genetic disorder. Our genome interpretation tools will be able to identify that disorder and guide treatment.”
–Mark Yandell, Ph.D., University of Utah, professor of human genetics, co-director of the USTAR Center for Genetic Discovery, and co-creator of the VAAST and Phevor algorithms.