Case Study: University of California, San Francisco improves rare disease variant detection with SOPHiA GENETICS SOPHiA DDM Platform

University of California, San Francisco boosts positive findings to 25-30% with SOPHiA GENETICS

The University of California, San Francisco (UCSF) Pathology laboratory sought to increase the diagnostic yield of its exome sequencing for pediatric and prenatal cases. Their challenge was to solve more inconclusive and negative cases by improving the detection of copy number variants (CNVs) and mitochondrial DNA variants. To achieve this, they utilized the SOPHiA DDM™ Platform from SOPHiA GENETICS.

SOPHiA GENETICS worked with UCSF to implement a custom whole exome solution. This optimized workflow doubled the sequencing depth to enable sensitive CNV detection and successfully identified mitochondrial variants down to a 5% allele fraction. As a result of this solution from SOPHiA GENETICS, the proportion of positive findings at UCSF increased to 25-30%.

University of California, San Francisco (ucsf)