Emedgene software, offered by Illumina, is a comprehensive research tool designed by geneticists to streamline tertiary analysis workflows for rare disease genomics and other germline research applications. It supports data from Whole-Genome Sequencing (WGS), Whole-Exome Sequencing (WES), targeted panels, and microarrays. The software is powered by Explainable AI (XAI) and automation, which enables a 2–5x increase in efficiency and a 50–75% reduction in total workflow time per subject compared to manual interpretation.
The XAI prioritizes high-confidence candidate variants and provides a transparent evidence graph, linking to relevant literature and databases, which helps variant interpretation research scientists quickly review and confidently scale their operations. The AI model has been validated with high accuracy (e.g., 97% overall for subjects analyzed in one study).
Key Features and Capabilities:
- Explainable AI (XAI): Prioritizes variants with transparent, evidence-backed insights.
- Automation: Optimizes workflows for user-defined Standard Operating Procedures (SOPs) across various test types.
- Automated Classification: Provides time-saving automated ACMG classifications for comprehensive variant types, including SNVs, indels, CNVs, SVs, and mtDNA variants.
- API Interoperability: Powerful API for integrating tertiary analysis with LIMS, storage, and pipelines.
- Customizable Reporting: Allows users to customize, edit, and automatically populate research reports, which can be downloaded in PDF or JSON format.
- Data Input Flexibility: Compatible with FASTQ and VCF file formats from virtually any secondary variant caller.
Emedgene integrates with Illumina's secondary analysis and data storage platforms, including DRAGEN Secondary Analysis, BaseSpace Sequence Hub, and Illumina Connected Analytics, offering a single-vendor solution from sample processing through research report generation. The software is intended for Research Use Only.