New RD-Connect GPAP features implemented in collaboration with Solve-RD, EJP-RD and ELIXIR enable the diagnosis of rare disease patients with previously negative WES/WGS

EUROPEAN JOURNAL OF HUMAN GENETICS

SPRINGERNATURE

1. EU [FP7-305444, H2020-779257, H2020825575]
2. ISCIII [PT13/0001/0044, PT17/0009/0019]
3. INB
4. ELIXIR