RD-Connect GPAP workshop at the European Human Genetics Conference

The RD-Connect team from CNAG, Barcelona, will run a Genome-Phenome Analysis Platform (GPAP) hands-on workshop at the European Human Genetics Conference in Milan, Italy. The workshop will start with an overview of RD-Connect followed by a demonstration of the GPAP and the practical session when the attendees will analyse patient sequencing data in the GPAP and identify rare disease causing variants. Participants will learn to use Human Phenotype Ontology (HPO), OMIM and Orpha codes for entering clinical data through PhenoTips, which allow for machine-readable querying; filter and prioritise genomic variants (including mode of inheritance, quality, affected gene, consequence, pathogenicity prediction, and control population frequency) and prioritize and further interpret genomic variants using additional integrated tools (including Exomiser, DiseaseCard, ALFA, ePGA, and UMD Predictor).