FOR IMMEDIATE RELEASE
October 15, 2019 HOUSTON, TX
Genomenon® announced today at the American Society of Human Genetics Annual Meeting (ASHG) a partnership with SOPHiA GENETICS that includes incorporating the 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 analyzed more than 420,000 genomic profiles – 16,000 new profiles processed each month. The Alamut Suite 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. We are thrilled to be able to provide our users with all the necessary information they need to make the best possible decision for each case,” said Gioia Althoff, Senior Vice President, Genomics for SOPHiA.
“We’re excited to partner with SOPHiA to put the most comprehensive and up-to-date genomic research in the hands of geneticists and researchers performing genomic analysis.” said Mike Klein, CEO of Genomenon. “The broader adoption of Genomenon’s Mastermind provides significant value to our fast growing customer base around the world.”
The Real-world Evidence to validate a drug target, identify trial-eligible patients, or change a diagnosis already exists. It is buried in 39 million biomedical articles, locked behind paywalls and supplemental files most researchers never find.
Genomenon closes that gap. Fit-for-purpose AI-powered search reads 11.2 million full-text papers and 3.7 million supplemental datasets. Eighty expert scientific curators validate every finding. The result is structured, traceable, regulatory-grade Real-World Evidence at the genetic variant and patient level. Loxo@Lilly used Genomenon to add 73 variants to the RET label. In a head-to-head, Genomenon identified 83% more rare disease patients than ChatGPT plus OpenEvidence.
250+ diagnostic labs and 75 biopharma programs rely on Genomenon as the evidence layer behind precision medicine.
SOPHiA GENETICS (Nasdaq: SOPH) is a cloud-native healthcare technology company on a mission to expand access to data-driven medicine by using AI to deliver world-class care to patients with cancer and rare disorders across the globe. It is the creator of the SOPHiA DDM™ Platform, which analyzes complex genomic and multimodal data and generates real-time, actionable insights for a broad global network of hospital, laboratory, and biopharma institutions.
