Every patient deserves the best answers science can give
Emedgene powers your genomic analysis with machine learning, enabling high throughput interpretation and closing the gap between scientific discovery and patient care. Working for you, working for your patients.
Scehdule a Demo
Trusted by the world’s leading genomics institutions
Every patient deserves the best answers science can give
Emedgene powers your genomic analysis with machine learning, enabling high throughput interpretation and closing the gap between scientific discovery and patient care. Working for you, working for your patients.
Schedule a Demo
Trusted by the world’s leading genomics institutions
High throughput genomic interpretation
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Automate
A composite of machine learning technologies that automate the variant interpretation workflow, leaving you more time to focus on the insights.
Analyze
This isn’t a self-driving algorithm. Evaluate and control every hypothesis the AI suggests with a full-featured workbench. Implement advanced customization for your lab’s SOP.
Operate
Integrate smoothly and securely with lab operations, existing software and bioinformatics pipelines. Manage team collaboration effectively from sample to report.
It takes diligence to identify a single causative variant among hundreds.
It takes Emedgene to do it 50 times a day.
It takes diligence to identify a single causative variant among hundreds.
It takes Emedgene to do it 50 times a day.
Re-Emedgening genomic interpretation
Pinpoints causative variants
Provides a shortlist of causative variants likely to solve the case, along with supporting evidence from the literature and databases.
96%
Recall
Builds Knowledge
An AI knowledge graph codifies the complex and continuously updated web of variants, genes, mechanisms and phenotypes that lie at the heart of the interpretation process.
425K
Entities
Curates Literature
Reads unstructured and structured data from the literature. Data is normalized and made available for analysis in our knowledge graph, following a layer of scientific review.
30%
Unique gene-disease connections
Extracts Phenotypes
Identifies HPO terms in any kind of clinical note, handwritten or typed. Achieves high true positive rate, while maintaining low false positives.
98%
Precision
Re-Emedgening genomic interpretation
Pinpoints causative variants
Provides a shortlist of up to 10 causative variants likely to solve the case, along with supporting evidence from the literature and databases
96%
Recall
Builds Knowledge
An AI knowledge graph codifies the complex and continuously updated web of variants, genes, mechanisms and phenotypes that lie at the heart of the interpretation process.
425K
Entities
Curates Literature
Reads unstructured and structured data from the literature. Data is normalized and made available for analysis in our knowledge graph, following a layer of scientific review.
30%
Unique gene-disease connections
Extracts Phenotypes
Identifies HPO terms in any kind of clinical note, handwritten or typed. Achieves high true positive rate, while maintaining low false positives.
98%
Precision
New & News
Webinar
ACMG 2020
Genetics in Epilepsy – Early Steps on the Path to Precision Medicine
Prof. Poduri will share the results of an integrative clinical-research initiative at Boston Children’s Hospital, using in-hospital epilepsy diagnostics to expedite genomic discovery and improve patient care. Epilepsy, as an indication with a high prevalence of genomic etiology, is one of Boston Children’s largest research cohorts.
Speaker: Annapurna Poduri, MD, MPH
Director, Epilepsy Genetics
Date & Time: June 25th, 12:30PM ET
Access Recording
Webinar
Christian Marshall
Analytical validation of clinical whole genome sequencing
Speaker: Dr. Christian Marshall, Molecular Laboratory Director at SickKids
White Paper
Inside Big Data logo
AI and Constitutional Genomics: A 2019 Literature Review
In this new review paper, we’re highlighting notable AI publications from 2019.
Webinar
Dr Linyan Meng, Dr Shay Tzur
Breaking the Interpretation Bottleneck
Examining the utility of an automated genomic interpretation algorithm in a clinical genetic lab
Blog
ACMG 2020
Breaking Genes
June 26th, 2020
Results from 13,037 WGS, 3-day rapid WGS/WES, Covid-19 host genetics NEJM, and more
New & News
Webinar Series
ACMG 2020
Genetics in Epilepsy – Early Steps on the Path to Precision Medicine
Prof. Poduri will share the results of an integrative clinical-research initiative at Boston Children’s Hospital, using in-hospital epilepsy diagnostics to expedite genomic discovery and improve patient care. Epilepsy, as an indication with a high prevalence of genomic etiology, is one of Boston Children’s largest research cohorts.
Speaker: Annapurna Poduri, MD, MPH
Associate Professor in Neurology, Harvard Medical School
Director, Epilepsy Genetics Program, Boston Children’s
Date & Time: June 25th, 12:30PM ET
Webinar
ACMG 2020
Analytical validation of clinical whole genome sequencing
Speaker: Dr. Christian Marshall, Molecular Laboratory Director at SickKids
White Paper
AI and Constitutional Genomics: A 2019 Literature Review
In this new review paper, we’re highlighting notable AI publications from 2019
Webinar
ACMG 2020
Breaking the Interpretation Bottleneck
Examining the utility of an automated genomic interpretation algorithm in a clinical genetic lab
Blog
ACMG 2020
Breaking Genes
June 26th, 2020
Results from 13,037 WGS, 3-day rapid WGS/WES, Covid-19 host genetics NEJM, and more
Used in clinical, translational and research labs
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Clinical
Power high throughput genomic analysis and interpretation with the only AI solution tightly integrated into a full-featured clinical workbench.
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Research
Accelerate your rate of discovery using a powerful knowledge graph and machine learning driven interpretation
Powered by AI, grounded in science
Breaking the Interpretation Bottleneck
The utilization of WES and WGS in clinical practice has become widespread in recent years. However…
Read abstract
ashg19
Abstract, October 2019
The use of AI technologies in genomic interpretation
Due to the rapid growth in the use of genome sequencing in medicine, the interpretation workload for gen…
Read abstract
ASHG 2018
Abstract, October 2018