TY  - JOUR
AU  - Yépez, Vicente A
AU  - Demidov, German
AU  - Ellwanger, Kornelia
AU  - Laurie, Steven
AU  - Luknárová, Rebeka
AU  - Joseph Maran, Midhuna Immaculate
AU  - Hentrich, Thomas
AU  - Sagath, Lydia
AU  - van der Sanden, Bart
AU  - Astuti, Galuh
AU  - Neveling, Kornelia
AU  - Batlle-Masó, Laura
AU  - Beijer, Danique
AU  - Brechtmann, Felix
AU  - Caballero-Oteyza, Andrés
AU  - Dabad, Marc
AU  - Denommé-Pichon, Anne-Sophie
AU  - Doornbos, Cenna
AU  - Eddafir, Zakaria
AU  - Estévez-Arias, Berta
AU  - Kilicarslan, Ozge Aksel
AU  - Kolen, Ingrid H M
AU  - Kraß, Leon
AU  - Lohmann, Katja
AU  - Londhe, Shubhankar
AU  - López-Martín, Estrella
AU  - Maassen, Kars
AU  - Macken, William
AU  - Martínez-Delgado, Beatriz
AU  - Mei, Davide
AU  - Mertes, Christian
AU  - Minardi, Raffaella
AU  - Morsy, Heba
AU  - Mueller, Juliane S
AU  - Natera-de Benito, Daniel
AU  - Nelson, Isabelle
AU  - Oud, Machteld M
AU  - Paramonov, Ida
AU  - Picó, Daniel
AU  - Piscia, Davide
AU  - Polavarapu, Kiran
AU  - Raineri, Emanuele
AU  - Savarese, Marco
AU  - Smal, Noor
AU  - Steehouwer, Marloes
AU  - Steyaert, Wouter
AU  - Swertz, Morris A
AU  - Thomsen, Mirja
AU  - Töpf, Ana
AU  - Van de Vondel, Liedewei
AU  - van der Vries, Gerben
AU  - Vitobello, Antonio
AU  - Wilke, Carlo
AU  - Zurek, Birte
AU  - T' Hoen, Peter-Bram
AU  - Matalonga, Leslie
AU  - Vissers, Lisenka E L M
AU  - Gilissen, Christian
AU  - Schulze-Hentrich, Julia
AU  - Beltran, Sergi
AU  - Esteve-Codina, Anna
AU  - Hoischen, Alexander
AU  - Gagneur, Julien
AU  - Graessner, Holm
TI  - The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
JO  - Nature genetics
VL  - 57
IS  - 10
SN  - 1061-4036
CY  - London
PB  - Macmillan Publishers Limited, part of Springer Nature
M1  - DZNE-2025-01166
SP  - 2361 - 2370
PY  - 2025
AB  - Despite advances in genomic diagnostics, the majority of individuals with rare diseases remain without a confirmed genetic diagnosis. The rapid emergence of advanced omics technologies, such as long-read genome sequencing, optical genome mapping and multiomic profiling, has improved diagnostic yield but also substantially increased analytical and interpretational complexity. Addressing this complexity requires systematic multidisciplinary collaboration, as recently demonstrated by targeted diagnostic workshops. Here, we highlight the experience of the Solve-RD consortium, a pan-European initiative, in implementing four structured workshops, termed 'Solvathons', as a regular and effective component of its operational workflow. We provide actionable insights, best practices and lessons learned for successful data integration, expert training and scalable collaborative diagnostics within large research consortia.
KW  - Rare Diseases: diagnosis
KW  - Rare Diseases: genetics
KW  - Humans
KW  - Europe
KW  - Genomics: methods
KW  - Genetic Testing: methods
LB  - PUB:(DE-HGF)16
C6  - pmid:40926087
DO  - DOI:10.1038/s41588-025-02290-3
UR  - https://pub.dzne.de/record/281733
ER  -