Emedgene software

Unlock genomic insights for hereditary disease

Emedgene variant interpretation software streamlines your tertiary analysis workflows for rare disease and germline screening research applications

DRAGEN apps and pipelines
  • ISO 27001 Certified

  • SOC 2 Type II

  • HIPAA & GDPR Ready

For a complete list of security and privacy certifications visit the Illumina Trust Center.

Confidently scale variant analysis with explainable AI (XAI)

Emedgene software is designed to accelerate the time and certainty in user-defined variant interpretation, prioritization, curation, and research report generation from sequencing and microarrays.

Streamlined

Enable greater efficiency from your tertiary analysis workflows with explainable AI (XAI) and automation supporting genomes, exomes, virtual panels, targeted panels, and microarrays. From dozens of samples to populations, save valuable time per subject and per project.

Integrated

Unify your wet lab and dry lab to simplify and secure your complete sequencing or microarray workflow. Integrate with DRAGEN for accurate, comprehensive, and efficient variant calling. Speed user-driven, variant interpretation by up to 75% per subject from single sample workflows to population scale studies.

Powered for growth

Confidently keep pace with evolving science, technology, and test volumes with up-to-date knowledge sources, automated curation capabilities, and a team of experts to support your journey.​

We help you

Scale volume

Increase throughput without increasing headcount using explainable AI (XAI) and automated workflows. Speed user-driven, variant interpretation by up to 75% per subject from single sample workflows to population scale studies.

Expand your analysis

Broaden your analysis to whole-genome sequencing (WGS) or whole-exome sequencing (WES), or standardize virtual panels on a backbone assay. Analyze various variant types—SNVs, indels, short tandem repeats (STRs), copy number variants (CNVs), other structural variants, and mtDNA. Unify your variant insights from cytogenetic microarrays on the same platform.

Launch assays

Whether you are conducting research in rare disease, other genetic diseases, hereditary risk assessment, carrier screening, healthy population screening, pharmacogenomics, cytogenetics, or more, implement a high-throughput WGS, WES, virtual panel, targeted panel, or microarray workflow that is integrated into your lab's digital ecosystem.

Share curated knowledge

Leverage the power of collaboration to share knowledge across a private network of labs that you define and control.

Key features of Emedgene

Explainable AI (XAI)

Never a black box. High accuracy1 explainable AI (XAI) prioritizes insights backed by evidence to increase workflow efficiency and confidence.

Automation

Maximize efficiency and scale by optimizing workflows for your standard operating procedures (SOPs) across test types, locking in your automated flow.

 

Powerful API interoperability

Integrate workflows with application programming interfaces (APIs), linking your tertiary analysis with laboratory information management systems, storage, pipelines, and more.

 

Emedgene software preview

With 97% accuracy1 in prioritizing relevant insights, AI can suggest variants in complex data sets that typically require hours of manual review.

Transparent logic. Every AI hypothesis is backed by literature and database sources.

Time-saving automated ACMG classifications for SNV, indel, CNV, and SV deletions/duplication variants.

Maximize use and reuse of your organization’s curated knowledge. Share across a private network of connected labs.

Product content

Emedgene brochure

Understand how automating insights can help you confidently scale your data operations.

Emedgene data sheet

Overview of the automated insights solution with AI prioritization that can streamline dry lab workflows for WGS, WES, virtual panels, and targeted panels.

Emedgene security brief

Learn how Emedgene employs key security and privacy features, coupled with compliance certifications, to protect sensitive NGS data.

Emedgene’s machine learning simplifies the highly complex task of variant analysis, allowing us to handle more tests every day.²

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Breaking the interpretation bottleneck

Dr. Linyan Meng from Baylor College of Medicine presents the results of a research study demonstrating the utility of machine learning for interpretation in a 180-sample cohort. By automating variant prioritization and classification processes, machine learning technologies support eliminating the genomic data interpretation bottleneck.

Simple pricing that grows with you

Try the complete BioInsight Platform free for 30 days with no credit card, no purchase order, and no obligations. When you're ready to scale, pay only for what you use or choose the option to save with volume discounts.

Most popular

Start free

FREE for 30 days

Perfect for: Evaluation and pilot projects

  • Full platform access for 30 days

  • No credit card required

  • No upfront commitment

  • 100 Illumina BioInsight Credits included

Pay-as-you-go

Scale with flexibility

Perfect for: Variable workloads and usage

  • No upfront commitment

  • Pay only for what you use

  • Monthly billing

  • Premium support options available

  • Cancel anytime

Choose and save

Unlock volume-based savings

Perfect for: Production and predictable usage

  • Choose 1-, 3-, or 5-year plans

  • Premium support options available

  • Upfront or monthly billing options

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Try Emedgene for free

Discover how you can streamline germline variant interpretation and power your lab for growth. No credit card required.

References

  1. PMeng L, Attali R, Talmy T, et al. Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory. Genet Med. 2023; 25(6):100830. doi: 10.1016/j.gim.2023.100830
  2. BioSpace. GGC reduces turn around time on genomic analysis by 75% with Emedgene's AI platform. biospace.com/greenwood-genetic-center-reduces-turn-around-time-on-genomic-analysis-by-75-percent-with-emedgene-s-ai-platform. Accessed June 10, 2026.