Where The Worlds of Technology and Science Intersect

Applying an analytic framework to genomics

Set a Demo

Where the worlds of Technology and Science Intersect

Applying an analytic framework to genomics

Set a Demo

Advanced Technology Guided by Deep Scientific Context

Emedgene is a next generation genomics intelligence platform, incorporating the most advanced artificial intelligence technologies to significantly streamline the interpretation and evidence presentation process. Using emedgene, healthcare providers will be able to provide individualized care to more patients through significantly improved yield.

The Science

The emedgene research arm is focused on developing new methodologies to identify the clinical impact of different types of variants in both known and unknown genes. With an average of only 30% of cases solved, and high variance in the resolution rate of different genomic interpreting teams, there is a clear need for new and consistent scientific methods. The challenge is even more important when considering that most genes functionality has yet to be discovered, and there are some 4000 genetic diseases with unknown causes.

Our model relies on years of work at the intersection of academic research and clinical care, and brings the vigorous attitude and “know-how” of researchers as they analyze unknown genes, to the practical results required in clinical care.

The emedgene research arm utilizes advanced machine learning and artificial intelligence technology to generate new insights, which are then reviewed by our scientists in order to find new avenues of research, typically unavailable to the sole researcher or geneticist focused on a single case. As a result, customers using the emedgene platform, have been able to achieve diagnostic yield as high as 60%.

Some of our developments include:

  • Adding proprietary statistical, biological, and molecular models to gain insights on properties of the various genetic elements.

  • Multifactorial model for analyzing unknown variants and unknown gene influences on clinical symptoms.

  • Determining indirect connections between the different genomic elements, including: variants, genes, diseases, and phenotypes.

Our Customers Say

Emedgene is introducing novel applications with the potential to allow clinicians and geneticists perform high-quality analysis of ‘next gen’ data quickly. They are unique in their attempt to implement techniques used in research-based exome analysis in an automated and user-friendly way.  Their most Interesting features are automated reanalysis, prioritization based on both the phenotype and the variant characteristics, and an interactive workflow that can enable a higher diagnosis rate based on additional clinical data.

Karin Weiss MD - Pediatrician and Medical Geneticist, Diplomat of the American Board of Medical Genetics

Emedgene helped our clinical genetic Institute to improve our advanced genetic medicine offering. With emedgene our small team was able to more quickly identify causative mutations, provide clinical interpretation in less time and help more patients. The system is very easy to use, and it helped us improve team communication around patient cases, and was useful for better phenotyping patients. Bottom line – our diagnostic yield is much higher.

Dr. Adel Shalata Pediatrician and Medical Geneticist, Head of The Genetic InstituteBnai Zion Medical Center

I have known emedgene for several years, and I’m pleased to declare that with the help of their excellent platform, I was able to help patients and their families to identify some unique causative variants in unknown genes and to diagnose these patients who went for years undiagnosed. Emedgene is known to me for their commitment and state-of-the-art technology which make emedgene to be in the forefront of science and bring research methodologies to practical use.

Professor Zvi U. Borochowitz, MD, Professor of Pediatrics and Medical GeneticsMedical Genetics Clinic Assuta Medical Center