Emedgene

Emedgene develops variant interpretation software for tertiary analysis of genomic data, aimed at rare disease and germline screening applications. The software prioritizes, interprets, curates and classifies variants from whole-genome sequencing, whole-exome sequencing, virtual panels, targeted panels and cytogenetic microarrays, covering SNVs, indels, short tandem repeats, copy number variants, other structural variants and mitochondrial DNA. It generates research reports and provides automated ACMG classifications for SNVs, indels, CNVs and structural deletions/duplications, and lets organizations reuse curated knowledge and share it across a private, user-defined network of connected labs.

The product is positioned within the Illumina informatics portfolio alongside DRAGEN, Connected Insights, BaseSpace, BioInsight Platform Core and Clarity LIMS, and integrates with DRAGEN for variant calling. APIs connect the tertiary analysis workflow to laboratory information management systems, storage and pipelines. The listed compliance posture includes ISO 27001 certification, SOC 2 Type II, and HIPAA and GDPR readiness.

Earlier company materials describe an AI engine trained on data points drawn from patient cases, genomic databases and genomics publications, with literature curated automatically using natural language processing. Reported users of the platform include Baylor Genetics, Baylor College of Medicine, Medical College of Wisconsin, Greenwood Genetic Center, TGEN and Clalit HMO.