Skip to main content
Premium Trial:

Request an Annual Quote

Illumina, Emedgene Partner on Automated Genomic Data Interpretation

NEW YORK – Illumina and Emedgene announced on Wednesday a partnership on software for use in next-generation sequencing-based rare disease diagnosis.

Under the non-exclusive deal, the partners will integrate Emedgene's clinical rare disease application into Illumina's TruSight software suite. Financial and other terms of the agreement were not disclosed.

Emedgene, based in Palo Alto, California, offers software tools for automated genome interpretation in clinical and research use cases.

"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 artificial intelligence (AI) tools into TruSight software suite," Illumina VP of Scientific Research Ryan Taft said in a 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."

This year, Illumina invested in genome interpretation capabilities, acquiring genomic data compression firm Enancio in July and genomic data analysis and management platform provider BlueBee in June.

Emedgene raised $6 million in Series A financing in early 2019.

The Scan

Genes Linked to White-Tailed Jackrabbits' Winter Coat Color Change

Climate change, the researchers noted in Science, may lead to camouflage mismatch and increase predation of white-tailed jackrabbits.

Adenine Base Editor Targets SCID Mutation in New Study

Researchers from the University of California, Los Angeles, report in Cell that adenine base editing was able to produce functional T lymphocytes in a model of severe combined immune deficiency.

Researchers Find Gene Affecting Alkaline Sensitivity in Plants

Researchers from the Chinese Academy of Science have found a locus affecting alkaline-salinity sensitivity, which could aid in efforts to improve crop productivity, as they report in Science.

International Team Proposes Checklist for Returning Genomic Research Results

Researchers in the European Journal of Human Genetics present a checklist to guide the return of genomic research results to study participants.