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Emedgene collaborates with Illumina to scale the interpretation of genomic data for rare diseases

PALO ALTO, California, Dec. 16, 2020 /PRNewswire/ — Emedgene, a leading precision medicine intelligence company, announces a non-exclusive partnership with Illumina Inc. 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.

Healthcare is in the midst of a leap towards precision medicine. Continued improvements in the cost of next-generation sequencing (NGS) technologies, such as those developed by Illumina, have dramatically accelerated the adoption of genetic testing. Consequently, data generated from genomics doubles every year and is expected to reach 20 exabytes by 2025. The genomic interpretation market transforms data into meaningful insights that improve patient care and impact the many different medical disciplines that incorporate genomics into routine care.

As next generation sequencing has become readily accessible throughout the globe, data interpretation of sequencing outputs has struggled to keep pace. Gaining insights can require hours of manual review. Machine learning offers the opportunity to automate and speed the process, uncover new insights and provide additional context to researchers in a shorter time.

Emedgene’s Cognitive Genomics IntelligenceTM 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. Illumina has initiated the precision medicine revolution by unlocking the power of the genome. Emedgene is on a mission to equip healthcare and lifesciences 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,” said Einat Metzer, Emedgene’s Co-Founder and CEO.

“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,” says Ryan Taft, VP, Scientific Research at Illumina. “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.”

About Emedgene:
Emedgene is on a mission to unlock genomic insights for the world’s health organizations by providing data-driven AI solutions for genomic diagnostics and discovery at scale. We work with leading healthcare and lifesciences organizations to enable precision medicine programs, enable high throughput diagnostics and accelerate the pace of research. To learn more, visit


SOURCE Emedgene

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