Devoxx Greece 2024 - Understanding the human genome: data mining in the world of DNA

Speakers : Aggeliki Karabassi & Christos Rizadis Saphetor is the creator of VarSome, a suite of intuitive and data-driven bioinformatics solutions for clinicians and researchers, powered by a proprietary Molecular DB with over 130 integrated and harmonized genomic data sources, linked by AI to millions of publications. Varsome is an essential tool to the genomics community, enabling users to find, share and understand the most comprehensive human genome data and to collaborate to improve health and lives around the world. The platform has been referenced more than 3000 times in scientific publications. During this talk, the audience will get acquainted with the state of the art in human genomics research and get a glimpse of how machine learning concepts are used to mine relevant information from publications and link them to specific genes, mutations and diseases.