The main objective of this workshop is to provide participants with hands-on experience to submit genomic and pheno-clinical data to the ERDERA Diagnostic Research Workstream through the RD-Connect GPAP platform. The session will cover different submission methods, emphasizing mandatory fields and ensuring compliance with admitted data formats. Additionally, participants will learn to efficiently browse and manage their submitted cases within the platform.
Presenters: Kornelia Ellwanger, Ida Paramonov and Leslie Matalonga