The Grandangolo in Genetica Medica 2022 is approaching and we are pleased to inform you that our CSO Susanna Zucca will present a live session on March 24 at 4:50pm!
The conference aims to provide an overview of the most relevant updates that have emerged during the year in our discipline both from international webinars and from the scientific literature. Leading experts will coordinate the thematic sessions during which speakers will present the state of the art on topical issues, both in the diagnostic and research fields.
DIVAs: Beyond Mendelian Inheritance
Speaker: Susanna Zucca, PhD, CSO
DIVAs is enGenome digenic variant interpreter, currently under development. Thanks to an innovative approach based on artificial intelligence, it identifies and interprets digenic variants based on the patient’s phenotype and family information. The tool is able to evaluate the pathogenicity of combinations of variants present on two different genes, thus supporting geneticists in the interpretation of possible diagnoses of pure digenic, composite or hypothesis of double diagnosis.
During the session Dr. Susanna Zucca will present some use cases of laboratories around the world utilizing DIVAs to diagnose digenic diseases.