Unlock genomic insights for hereditary disease

Emedgene streamlines your tertiary analysis workflows for rare disease genomics and other germline research applications

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.


Enable greater efficiency from your tertiary analysis workflows with explainable AI (XAI) and automation supporting genomes, exomes, virtual panels, and targeted panels.


Unify your laboratory and next-generation sequencing (NGS) instrumentation with your IT systems to simplify and secure your complete workflow.

Powered for growth

Confidently keep pace with evolving science, technology, and demand with up-to-date knowledge graph options, 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.

Expand your analysis

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

Launch assays

Implement a high-throughput WGS, WES, virtual panel, or targeted panel 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.

Key features of Emedgene

Explainable AI (XAI)

XAI prioritizes insights backed by evidence to increase workflow efficiency and confidence. 



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

Dr. Ray Louie, PhD

Assistant Director, Greenwood Genetic Center

Key applications

Whole-genome sequencing

WGS is the most comprehensive method for genetic disease testing and is increasingly applied to rare disease and other hereditary disease research.

Virtual panels

Virtual panels or “slices” can be created from a more comprehensive “backbone” assay that is standardized in the lab, such as WGS or WES.

Whole-exome sequencing

WES evaluates the exons, or coding regions of the genome. WES can also serve as a standardized backbone assay for virtrual gene panels.

Targeted sequencing

Analyze specific genes that are important for a hereditary disease or condition.

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Speak with a specialist

Discuss your workflow to learn how you can streamline your NGS operations and power your lab for growth using Emedgene.