Event: Solve-RD webinar “RD-Connect GPAP – basic analysis”
Date: 9 December, 02:00-03:00 PM Amsterdam, Berlin, Rome, Stockholm, Vienna
Speaker: Steven Laurie (CNAG, Barcelona)
Audience: Solve-RD partners that have no (or very few) previous experience analysing (filtering and prioritising) genomic data through the GPAP. Users will learn how to filter and prioritise variants (SNVs, InDels, and CNVs) using common annotations and on-the-fly gene panels associated to diseases, phenotypes, and pathways (OMIM, ORDO, HPO, PanelApp, Reactome), how to interpret genomic variants according to ACMG guidelines and how to use integrated tools such as Exomiser, Mendelian.co, ClinVar, and Varsome.