Illumina, Emedgene Partnership to Automate AI-Driven Data Analysis for Rare Diseases

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A non-exclusive partnership between Illlumina and AI-based precision medicine company Emedgene will seek to automate the interpretation of rare genetic disease data into the TruSight software suite of products from Illumina.

Through the collaboration, TruSight will include Emedgene’s clinical rare disease application, one of a portfolio of artificial intelligence (AI)-powered applications for high-throughput genomic interpretation across clinical and research use cases.

Illumina and Emedgene reason that through AI-enhanced interrogation of medical literature and phenotypes associated with rare disease, researchers will be better able to make new and unexpected discoveries based on rare disease data.

“We believe that the interpretation and analysis of rare variants can be a bottleneck for the entire field,” Marcos Gonzales, associate director, product marketing at Illumina, told GEN. “When surveying the landscape of machine learning tools available to help bridge these gaps, we have and will continue to develop applications where our expertise meets a particular need and look to partner with others who have significant experience. We are impressed by the capabilities, functionality, and performance of Emedgene’s solutions in rare genetic disease.”

The collaboration is not focused on a specific rare disease.

“We are driven to help our customers mitigate some of the barriers to speedy diagnosis when evaluating the genome for rare diseases,” Gonzalez said. “We don’t have a specific rare disease or gene that occupies our attention; quite the contrary, we look to identify all rare disease variants.”

In addition to Emedgene’s solution, Illumina has integrated two predictive tools into TruSight. One is SpliceAI, which is designed to provide insights into whether particular variants are involved in cryptic splice site regions. The other tool, PrimateAI, can be used to predict benign missense variants that are highly conserved in other primate species.

Illumina says it continues to evaluate future inclusion opportunities for TruSight Software Suite, which was designed to accommodate additional tools.

The TruSight Software Suite is designed for translating sequencing data into meaningful, interpretable results in rare disease cases. This software as a service (SaaS) analytics solution integrates with BaseSpace Sequence Hub and is compatible with sequencing systems used for rare disease analysis, like NovaSeq 6000 or NextSeq 2000.

TruSight Software Suite is integrated with Illumina’s DRAGEN Bio-IT Platform, in order to enable comprehensive, streamlined variant analysis. DRAGEN secondary analysis can be used toward calling small variants, structural variants, mitochondrial variants, repeat expansions, runs of homozygosity, and SMN1/SMN2 variants. DRAGEN only supports repeat expansion calling and SMN1/2 calling with whole-genome samples and PCR-free methods.

Emedgene’s Cognitive Genomics Intelligence™ solution is designed to automatically produce insights from genomic data, reducing the time and cost of its interpretation. The solution aggregates all available resources including public databases and written literature, together with proprietary data layers created by our scientific team, into a single knowledgebase with a unified ontology.

The solution uses Emedgene’s Natural Language Processing (NLP) engine, designed to automatically read newly published scientific literature, incorporates it into its knowledgebase, and prioritizes data according to credibility, using criteria developed by the company’s scientists.

Emedgene raised $6 million last year in a financing round led by OliveTree Ventures.

“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,” Einat Metzer, Emedgene’s co-founder and CEO, said in a statement. “Emedgene is on a mission to equip healthcare and lifesciences organizations challenged to practice precision medicine, by making genomic insights accessible to all.”

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