GHGA Lecture Series: Steven Laurie (virtual)

Steven Laurie from the Spanish National Centre for Genomic Analysis (CNAG) in Barcelona will talk about "The RD-Connect Genome-Phenome Analysis Platform (GPAP) at the GHGA lecture series ("Advances in Data-Driven Biomedicine") on June 26, 2024.


Please register here on Zoom.


The Genome-Phenome Analysis Platform (GPAP) provides both a centralised omics data repository and a user-friendly interface that enables users to analyse genomic data  The Platform’s unique features allow clinicians and researchers to identify disease-causing mutations in their patients and confirm the diagnosis by finding matching cases submitted by other researchers around the world. To protect patient privacy, data are anonymised and the GPAP can be accessed only by verified and registered users. After submission whole-genome, exome, and panel data are transferred to the European Genome-Phenome Archive (EGA) for archiving, securely shared within the Platform and pro-cessed through a standard bioinformatics and variant calling pipeline. Associated pheno-typic data are recorded in the PhenoTips database, using the HPO, OMIM and ORDO ontologies to permit machine-readable querying. GPAG is a free online tool for analysis of genomic data linked to phenotypic information. By enabling data sharing, it speeds up gene discovery and diagnosis of rare diseases.