Sophia Genetics: New genomic application for investigation of Mendelian diseases

SOPHiA GENETICS SA (Nasdaq: SOPH), the creator of a global data pooling and knowledge sharing platform that advances data-driven medicine, announced today the launch of SOPHiA Clinical Exome Solution v3, a new genomic application that offers enhanced probe design and increased detection capabilities for a deeper investigation of Mendelian diseases.

SOPHiA Clinical Exome Solution v3 combines a capture-based target enrichment kit with the analytical capabilities and interpretation-support functionalities of the SOPHiA DDM platform, offering deep coverage of the target regions and accurate analysis of multiple types of variants (SNVs, Indels, and CNVs) in one unique experiment.

With new and improved probe design, rare and inherited disorder analyses benefit from increased detection capabilities within the entire mitochondrial genome, as well as non-coding variants in 280 genomic locations known to be disorder-causing. The probe design is highly optimized for high on-target reads percentage and coverage uniformity even in GC-rich regions, including the first exon.

Additionally, with improved analytical performance, institutions can reach more than 90% analytical sensitivity for CNV detection, helping them efficiently find the pathogenic needle in the big data haystack to improve turnaround time and free up resources.

The SOPHiA DD platform analyzes complex NGS data by detecting, annotating, and pre-classifying multiple types of genomic variants in all the genes of the panel.