Emedgene

Emedgene is Illumina's software for interpreting germline genetic variants, mainly in rare disease genomics. It ranks candidate variants with explainable AI and automates much of the review that lab scientists would otherwise do by hand.

Labs load sequencing results from exomes or genomes, and Emedgene filters and prioritises the variants most likely to explain a case. Each suggestion comes with the evidence behind it, such as literature and phenotype matches, so a reviewer can check why it was ranked highly before signing off.

The product sits inside the Illumina BioInsight software family next to DRAGEN secondary analysis and Connected Insights. It is sold to research and clinical genomics teams through Illumina rather than as a self-serve app.