Imagine trying to find a few typos in a library of millions of books; that is what diagnosing genetic diseases is like. Most tools only look for one big mistake, but some diseases are caused by several small errors working together. This tool uses AI to spot those complex patterns quickly, helping doctors find the cause of a patient's illness much faster.
Clinicians struggle to identify disease-causing variants in genomic data, leading to a diagnostic yield of only about 50%. Current tools fail to efficiently identify complex combinations of multiple variants (oligogenic) that cause disease.
A cloud-based SaaS platform that uses AI to classify single and multiple genomic variants. It includes the OliVer database for oligogenic combinations and the VarChat tool.
If you are a Genetic Testing Laboratory dealing with a diagnostic yield of only about 50% on average — this project developed a SaaS platform that identifies single and multiple genomic variants to increase the rate of successful diagnoses.
If you are a Drug Discovery Firm dealing with the need to identify unknown pathogenic variants for target validation — this project developed an AI-based interpreter that ranks variants by probability of causation.
If you are a Health-Tech Software Provider dealing with slow turnaround times in genomic data analysis — this project developed a cloud-based architecture that processes raw sequencing data to provide consistent variant interpretation.
Based on available project data, the platform is delivered as a SaaS (Software as a Service), but specific pricing tiers are not disclosed.
Yes, the system uses a finely engineered cloud-based architecture capable of analyzing raw sequencing data containing up to millions of variants per patient.
Based on available project data, the technology is developed by ENGENOME SRL, and they have released public resources like OliVer and VarChat to support the community.
The SaaS takes a list of patient genotypes and phenotypes as input and outputs a ranked list of pathogenic variants and a suggested diagnosis.
The project period was from 2022-04-01 to 2024-03-31, indicating the development phase is complete.
The project is led by a single Italian SME, ENGENOME SRL, representing a 100% industry ratio. This lean structure suggests a highly focused commercial drive, as the company handled all development and validation through collaborations with hospitals and institutions rather than a complex academic consortium.
Contact ENGENOME SRL in Italy for SaaS licensing
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