Leslie Matalonga from the National Center for Genomic Analysis (CNAG), Barcelona will talk about “The Genome-Phenome Analysis Platform (GPAP) - A collaborative platform for diagnosis and gene discovery in rare disease research” at the GHGA lecture series "Advances in Data-Driven Biomedicine" on September 17, 2025.

Abstract:

The RD-Connect Genome-Phenome Analysis Platform (GPAP) is a collaborative tool that allows researchers to analyze and share integrated sequencing and phenotypic data from rare disease patients and their relatives. It enables researchers to reanalyze and re-evaluate genomic and clinical data, share knowledge, and find similar cases within a collaborative environment.

The RD-Connect GPAP is currently the largest rare disease diagnostic and gene discovery platform funded by the European Commission. Recognised officially by the International Rare Diseases Research Consortium and funded by the EU and Spanish government, RD-Connect GPAP provides authorised clinicians and researchers with a secure and controlled access to pseudonymised sequencing data and clinical information from patients with rare diseases across 198 hospitals and research centres across the EU.