Lagorce, David http://orcid.org/0000-0002-7356-7986
Lebreton, Emeline
Matalonga, Leslie
Hongnat, Oscar
Chahdil, Maroua
Piscia, Davide
Paramonov, Ida
Ellwanger, Kornelia http://orcid.org/0000-0003-4845-5795
Köhler, Sebastian
Robinson, Peter http://orcid.org/0000-0002-0736-9199
Graessner, Holm http://orcid.org/0000-0001-9803-7183
Beltran, Sergi http://orcid.org/0000-0002-2810-3445
Lucano, Caterina http://orcid.org/0009-0008-3646-7469
Hanauer, Marc
Rath, Ana http://orcid.org/0000-0003-4308-6337
Funding for this research was provided by:
European Commission (779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257)
Article History
Received: 17 May 2023
Revised: 13 September 2023
Accepted: 5 October 2023
First Online: 6 November 2023
Competing interests
: The authors declare no competing interests.
: All individuals were recruited via four ERNs. Inclusion criteria were a clinical rare disease diagnosis in at least one family member by one of the associated expert centers and a non-conclusive exome or genome analysis at time of submission. We did not exclude anyone based on sex, gender, ethnicity, race, age or any other socially relevant groupings. Each patient entry was associated with its submitting investigator or clinician and linked to its corresponding ERN or UDP. The responsibility of checking the data was suitable for submission to the RD-Connect GPAP and Solve-RD lay with the data submitter as required by their Code of Conduct (institution: Fundació Centre de Regulació Genòmica) and Data Sharing Policy (institution: Solve-RD General Assembly), respectively. In some cases, individuals had to be re-consented prior to data submission. This study adheres to the principles set out in the Declaration of Helsinki.