Bioinformatic algorithms and AI-based models have been integrated in the finely engineered cloud-based architecture of the eVai SaaS to provide a comprehensive, robust and fast analysis of genomic data. EVai is the first and only monogenic, digenic and oligogenic variant interpreter available on the market. The software can now analyze row sequencing genomic data with validated state-of-the-art technology to obtain the list of different classes of genomic variants occurring in a patient (up to millions per single patient). Once this step is completed, eVai enriches the variants identified with information from dozens of “omic” resources and applies international guidelines to classify variants according to pathogenicity. Finally, through the layer of artificial intelligence we have developed, it can leverage clinical and familiar information, together with monogenic, digenic and oligogenic interactions to identify the genetic cause of the patients’ diseases.
As a final step, eVai pinpoints the suggested diagnosis for each patient, consisting of a single variant All the features integrated in eVai were finely validated and benchmarked on public datasets and on real datasets obtained within established collaborations with different partners (main hospitals and institution in the field).
To further support the genomic community, we have released two additional resources. First, OliVer (available at oliver.engenome.com) is a database of digenic and oligogenic combinations, with insights obtained through our ML model. Second, we have released VarChat (accessible at varchat.engenome.com PMID: 38579245), the first generative AI-based assistant to identify and summarize key literature about variants. Both these tools are freely available as web-based applications and are natively integrated within the eVai software.
