Emedgene Automated Interpretation Software Integrated Into Illumina TruSight Software Suite

By Bio-IT World Staff 

December 16, 2020 | Emedgene has announced a non-exclusive partnership with Illumina and the integration of automated interpretation into Illumina's TruSight Software Suite for rare genetic diseases. Emedgene's Clinical Rare Disease application is one of a portfolio of artificial intelligence (AI)-powered applications for high-throughput genomic interpretation across clinical and research use cases.

Emedgene's Cognitive Genomics Intelligence solution automatically produces insights from genomic data, reducing the time and cost of its interpretation. High-value features within Emedgene's AI solution are now integrated into Illumina's TruSight Software Suite platform. With AI-enhanced interrogation of medical literature and phenotypes associated with rare disease, researchers are positioned to make new and unexpected discoveries. 

"In the future, patients will have access to the $100 genome, making it as ubiquitous as a blood test. This genomic data will be attached to an electronic medical record, and inform clinical decision making throughout our lives. Billions of patients across disease areas will benefit from faster diagnosis and better treatment,” said Einat Metzer, Emedgene's Co-Founder and CEO in a press release. “Illumina has initiated the precision medicine revolution by unlocking the power of the genome. Emedgene is on a mission to equip healthcare and life sciences organizations challenged to practice precision medicine, by making genomic insights accessible to all. We're tremendously enthusiastic about the scale our new partnership with Illumina will enable, and the number of patients that will benefit from a genetic diagnosis.”

"It's essential that we deliver best-in-class tertiary analysis capabilities that complement our platforms which is why we have chosen to work with Emedgene on the integration of their AI tools into TruSight Software Suite," added Ryan Taft, VP, Scientific Research at Illumina in the same statement. "The combination of Illumina's comprehensive analysis of the genome with Emedgene's AI-driven insights will allow our customers to identify disease-causing variants at-scale, reducing interpretation time and benefiting individuals with rare genetic disorders across the globe."