SOPHiA GENETICS, a cloud-native healthcare technology leader in data-driven medicine, announced the next step in the partnership between the Company and Genomenon, a leading genomic intelligence company, to support better, data-driven outcomes in the rare disease and oncology fields. The two companies have expanded the integration of Genomenon’s Mastermind® Genomic Intelligence Platform into SOPHiA GENETICS’ Alamut™ Visual Plus, to empower researchers and clinical geneticists with a solution that helps accelerate variant interpretation for rare disorders.
Time is crucial in gathering actionable insights for rare diseases and cancers due to the complexity and unknown elements of their genetic underpinnings. Identifying these variants often involves navigating limited literature and sparse data, as many rare disorders lack comprehensive studies. Delays in finding relevant information can hinder accurate analysis and interpretation of genomic variants. Many rare conditions have no cure, and easy access to relevant, comprehensive and well-organized information can help accelerate insights and health decisions.
Alamut™ Visual Plus is an advanced decision-support tool for the exploration, annotation, and interpretation of genetic variants from next-generation sequencing (NGS) data. Genomenon’s Mastermind® Genomic Intelligence Platform provides comprehensive curated evidence for genomic data, as well an indexed content from more than 10 million full-text articles. The integration of the two tools significantly enhances variant curation and interpretation by connecting the Alamut™ Visual Plus comprehensive, full genome browser for variant interpretation to a vast library of scientific research, offering critical insights even for rare variants with limited existing research.
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This partnership will prove especially valuable in such cases where findings from only a single study globally might be available that hold the key to understanding a variant’s pathogenicity. By offering immediate access to a broad spectrum of indexed data and curated genomic insights, researchers and clinicians can more efficiently assess the pathogenicity of variants, enabling them to make informed decisions with greater confidence.
“We are excited to expand our work with Genomenon and provide our customers the opportunity to access world-class tools like Mastermind® through our technology platform.” said Ross Muken, President, SOPHiA GENETICS. “This partnership simultaneously benefits our customers, who will gain a more comprehensive understanding of detected variants in a seamless, single platform, while providing Genomenon the opportunity to broaden its reach through our unmatched global network.”
“Collaborating with SOPHiA GENETICS allows us to provide geneticists and researchers with the most comprehensive and up-to-date genomic research available as they review patient data in Alamut,” said Mike Klein, CEO of Genomenon. “The links to Mastermind® from Alamut will put curated genomic data and the most recent research on every variant at the fingertips of clinicians assure patient diagnoses are informed by the most recent scientific findings in a single, complete workflow.”
Source: PRWeb