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 https://www.sophiagenetics.com/clinical/inherited-disorders/rare-diseases/clinical-exome-solution-v3/.
About SOPHiA GENETICS:
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 email@example.com to obtain the appropriate product information for your country of residence.
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