SOPHiA Whole Exome Solution (WES) now includes accurate CNV detection, making it a powerful application for healthcare professionals in their fight against rare diseases.
Houston, Texas, USA – 18th October 2019: SOPHiA GENETICS, leader in Data-Driven Medicine, announced today at the American Society of Human Genetics Annual Meeting (ASHG) the release of the new version of SOPHiA Whole Exome Solution. This advanced genomic application is reducing the overall turnaround time, thus accelerating rare disease characterization.
Rare diseases affect roughly 400 million people globally1 . Their cause is genomic in approximately 80%2 of cases. Whole exome analysis has become key as it is extremely powerful in helping experts detect rare diseases, but it remains very challenging. A large amount of information is gathered, making it difficult to properly detect important DNA variations such as CNVs. However, an accurate identification of CNVs is crucial: on average, CNVs are present in almost 10% of affected patients and can account for up to 35% of pathogenic variants3.
Leveraging the analytical power of SOPHiA to further support researchers, the newly released WES application offers healthcare institutions a standardized genomic solution with exceptional analytical performance. It includes high resolution (2-5 exons) CNV detection in a single workflow without the need for any reference sample.
In addition to existing interpretation functionalities such as the ACMG automated variant classification guidelines, virtual gene panels, and the variant filter builder, SOPHiA WES now includes Familial Variant Analysis (trio analysis) to automatically filter variants based on different inheritance modes.
“We use constant feedback we receive from genomic experts worldwide to match the needs and means of clinical researchers for their genomic investigations,” says Gioia Althoff, Vice President Genomics Business Area at SOPHiA GENETICS.” SOPHiA WES now integrates CNV calling with unparalleled resolution at the exonic level, offering accurate detection of multiple types of variants in a single workflow.”
The updated SOPHiA Whole Exome Solution helps professionals globally manage the daunting amount of detected variants and focus solely on the most relevant ones. With this release, SOPHiA confirms its commitment to overcome barriers in adopting complex genomic applications worldwide by offering robust and standardized solutions.
[1]https://www.who.int/medicines/areas/priority_medicines/MasterDocJune28_FINAL_Web.pdf?ua=
[2] https://www.eurordis.org/about-rare-diseases
[3]Truty et al 2018, Genetics in Medicine volume 21, pages 114–123 (Nature 2019)
