Amplifying Intelligence in Genomic Analysis

Set the AI to extract phenotypes, find pathogenic variants & read the literature, so you can focus on the insights

time saved

on interpretation and reporting

The use of AI technologies in genomic interpretation, ASHG 2018


between different team members

The use of AI technologies in genomic interpretation, ASHG 2018

diagnostic yield

More gene-phenotype connections

Improved diagnostics in exome sequencing, Genetics in Medicine 2018

What can you do with Emedgene?



Machine learning algorithms designed to create a scalable and repeatable method for finding, organizing and applying genomics information.

Identifies pathogenic variants with a high degree of accuracy.

In a 180 case validation study, 96% of pathogenic variants were identified by the machine learning algorithms.

Interpretable machine learning algorithms present the full evidence for the machine’s variant identification, including links to the literature and database entries.
Reads the literature in order to surface insights in the context of a case.

28+ million articles in the knowledge graph.

A continuously updated 3D graph of variants, genes, pathways mechanisms and phenotypes from both literature and databases.

5,500 unique genes with associated disease
83,400 entities
330,000 connections

Identifies HPO terms in any kind of clinical note, handwritten or typed.

Achieves high true positive rate, while maintaining low false positives.

Precision: 98% Recall: 82%

Automatically identifies when new information is available for past open cases, scaling back-testing efforts.

Cases can also be reanalyzed with changed parameters.


A complete set of tools to enable human oversight and annotation of the AI’s outputs. These also enable compliance with your lab’s SOP.

Review variant classification using automatically generated ACMG tags.
Implement your SOP on the platform by creating custom filters, or use extensive predefined filters.
For larger organizations, implement a workflow with notifications for cases.
Create a searchable local DB of your organization’s curated and tagged variants.
Gender, pedigree, sample and coverage quality control
Intuitive visual interface, fits into your workflow


Integrate smoothly with lab operations and existing software and bioinformatics. Manage team collaboration effectively from sample to report.

WES, WGS, panels or custom panels from BCL, FASTQ, BAM or VCF
Connects via API to LIMS, bioinformatics pipeline, reporting, and EMR systems
Customize, edit, automatically populate reports
GDPR, SOC2 & HIPAA-compliant, cloud platform
Variant tagging per user and team collaboration features per case


The geneticist on the case always knows exactly why a variant is selected by the AI and has direct access to supporting information and literature collected in the knowledge graph.


How will AI impact your genomic analysis workflow?