Case Study: The University of Utah advances rare disease gene discovery with Fabric Genomics

The University of Utah - Customer Case Study

The University of Utah partnered with Fabric Genomics to improve the interpretation of difficult-to-diagnose genetic disorders in case-control and cohort studies. The challenge was to rapidly identify disease-causing variants across unrelated affected genome sequences and help researchers and clinicians understand rare conditions.

Fabric Genomics provided its variant classification software, including the VAAST and Phevor algorithms co-developed with the University of Utah, to prioritize candidate disease genes using genomic and phenotype data. The solution helped scientists discover Ogden Syndrome and identify the responsible gene in just 16 months, demonstrating the power of Fabric Genomics’ interpretation tools to accelerate rare disease discovery and potentially guide treatment.

The University of Utah

Mark Yandell

The University of Utah