On October 15, 2019, at the American Society of Human Genetics Annual Meeting (ASHG) 2019 annual meeting, Genomenon® announced a partnership with SOPHiA GENETICS that includes incorporating the Genomenon’s Mastermind® Genomic Search Engine into the SOPHiA Platform and the Alamut Suite. The partnership puts the most up-to-date genomic research at the fingertips of clinical researchers performing genomic analysis worldwide. The SOPHiA Platform is the technology of choice for streamlined Data-Driven Medicine, including clinical-grade genomic analysis, interpretation, and reporting. SOPHiA has been adopted by 1,000 healthcare institutions to date, and has analyzed over 420,000 genomic profiles, with 16,000 new profiles processed each month. The Alamut Suite, which is powered by SOPHiA, is a decision-support software designed to explore and investigate variations of the human genome. Alamut helps clinical researchers in the complex tasks of genomic variants annotations, filtration, and exploration. With the addition of Mastermind, users of both technologies will be able to quickly access the genomic evidence associated with human variants, shortening the search time required to interpret a variant and assess its pathogenicity. This partnership will allow SOPHiA’s users to see a wider picture of the detected variants. A key driver in the decision is the breadth and depth of Mastermind’s coverage of genomic variants and published literature. Mastermind has indexed over 7 million full-text articles and 600,000 supplemental data sets and covers over 5.7 million variants found in the medical literature. “This partnership will help experts better and more quickly assess the impact of accurately detected genomic variants in a clinical context.
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