SOPHiA GENETICS offers a new genomic application for a more in-depth study of Mendelian diseases

SOPHiA Clinical Exome Solution v3 Offers Streamlined End-to-End Workflow to Facilitate Assessment of Difficult Mendelian Disorders

BOSTON and LAUSANNE, Switzerland, 12 October 2021 / CNW / – SOPHiA GENETICS SA (Nasdaq: SOPH), the creator of a global data and knowledge sharing platform that advances data-driven medicine, today announced the launch of SOPHiA Clinical Exome Solution v3, a new genomics application that offers enhanced probe design and detection capabilities for further investigation of Mendelian diseases.

SOPHiA Clinical Exome Solution v3 combines a capture-based target enrichment kit with the analytical capabilities and interpretation support features of the SOPHiA DDM ™ platform, providing in-depth target region coverage and analysis precise of several types of variants (SNV, Indels and CNVs) in a unique experience.

Thanks to a new and improved probe design, analyzes of rare and inherited disorders benefit from increased detection capabilities throughout the mitochondrial genome, as well as non-coding variants in 280 genomic locations known to cause disorders . The probe design is highly optimized for high percent reads on target and uniformity of coverage, even in GC rich regions including the first exon.

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

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

To learn more about the SOPHiA Clinical Exome Solution v3 app, visit

SOPHiA GENETICS is a healthcare technology company dedicated to establishing the practice of data-driven medicine as the standard of care and for research in the life sciences. He is the creator of the SOPHiA DDM ™ platform, a cloud-based SaaS platform capable of analyzing data and generating information from complex multimodal data sets and different diagnostic modalities. The SOPHiA DDM ™ platform and associated solutions, products and services are currently used by more than 780 hospitals, laboratories and biopharmaceutical institutions around the world.

SOPHiA GENETICS products are for research use only and are not intended for use in diagnostic procedures unless otherwise specified. Product information which may or may not be available in different countries and, if applicable, may or may not have received marketing approval or authorization by a government regulatory body for different indications for use. Please contact to obtain the appropriate product information for your country of residence.

More info: SOPHiAGENETICS.COM; to follow @SOPHiAGENETICS on Twitter.

SOPHiA GENETICS forward-looking statements:

This press release contains statements that constitute forward-looking statements. All statements other than statements of historical fact contained in this press release, including statements regarding our future results of operations and financial condition, business strategy, products and technology, and plans and objectives of management for future transactions, are forward-looking statements. . Forward-looking statements are based on the beliefs and assumptions of our management and on information currently available to our management. These statements are subject to risks and uncertainties, and actual results may differ materially from those expressed or implied in forward-looking statements due to various factors, including those described in our documents filed with the Securities and Exchange Commission. the United States. No assurance can be given that such future results will be achieved. These forward-looking statements contained in this document speak only as of the date of this press release. We expressly disclaim any obligation or commitment to update any forward-looking statements contained in this press release to reflect any change in our expectations or any change in the events, conditions or circumstances upon which such statements are based, except as applicable law l ‘required. . No representation or warranty (express or implied) is made as to the accuracy of these forward-looking statements.

Media contact:
Eliza bamonti


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