Assessing Molecular Pathogenicity for Rare Diseases



Activities

Currently we are working on the organization of a BioHackathon topic in collaboration with the colleagues of the ELIXIR Service Collection AMP4RD partners. This initiative constitutes a first step toward the generation of computing workflows for the annotation and interpretation of the genetic variants descrided in the projects webpage.

During the two years of the Implementation Study we contributed and promoted the following activities: