enGenome is pleased to announce that they are currently seeking collaborations for their digenic variant interpretation beta-testing project, DIVAs.
The project kicked off at this year's ESHG with the formal announcement of requests for collaborators. Following the success of the first phase of their project in Europe they are now opening the request of collaborations to participants of this year's ASHG conference.
DIVAs takes as input patient's variants in VCF format and the phenotypes associated with the patient as HPO terms. Considering information at variant, gene, gene-gene interaction and phenotype level, DIVAs gives as output the list of digenic variant combinations classified as pathogenic.
enGenome invites interested parties to watch the CoLab Session during ASHG21 where enGenome's Chief Science Officer Dr. Susanna Zucca will explain how it works and present some clinical cases.
If you have samples containing suspected digenic variants and would like them evaluated by enGenome's DIVAs algorithm, please contact Dr. Susanna Zucca at firstname.lastname@example.org.