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Yépez, V.A.* ; Demidov, G.* ; Ellwanger, K.* ; Laurie, S.* ; Luknárová, R.* ; Joseph Maran, M.I.* ; Hentrich, T.* ; Sagath, L.* ; van der Sanden, B.* ; Astuti, G.* ; Neveling, K.* ; Batlle-Masó, L.* ; Beijer, D.* ; Brechtmann, F.* ; Caballero-Oteyza, A.* ; Dabad, M.* ; Denommé-Pichon, A.S.* ; Doornbos, C.* ; Eddafir, Z.* ; Estévez-Arias, B.* ; Kilicarslan, O.A.* ; Kolen, I.H.M.* ; Krass, L. ; Lohmann, K.* ; Londhe, S. ; López-Martín, E.* ; Maassen, K.* ; Macken, W.* ; Martínez-Delgado, B.* ; Mei, D.* ; Mertes, C.* ; Minardi, R.* ; Morsy, H.* ; Mueller, J.S.* ; Natera-de Benito, D.* ; Nelson, I.* ; Oud, M.M.* ; Paramonov, I.* ; Picó, D.* ; Piscia, D.* ; Polavarapu, K.* ; Raineri, E.* ; Savarese, M.* ; Smal, N.* ; Steehouwer, M.* ; Steyaert, W.* ; Swertz, M.A.* ; Thomsen, M.* ; Töpf, A.* ; Van de Vondel, L.* ; van der Vries, G.* ; Vitobello, A.* ; Wilke, C.* ; Zurek, B.* ; T' Hoen, P.B.* ; Matalonga, L.* ; Vissers, L.E.L.M.* ; Gilissen, C.* ; Schulze-Hentrich, J.* ; Beltran, S.* ; Esteve-Codina, A.* ; Hoischen, A.* ; Gagneur, J. ; Graessner, H.*

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Nat. Genet. 57, 2361-2370 (2025)

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Open Access Green as soon as Postprint is submitted to ZB.

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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.

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Publication type Article: Journal article

Document type Review

Keywords Repeat

ISSN (print) / ISBN 1061-4036

e-ISSN 1546-1718

Journal Nature Genetics

Quellenangaben Volume: 57, Issue: 10, Pages: 2361-2370

Publisher Nature Publishing Group

Publishing Place New York, NY

Reviewing status Peer reviewed

Institute(s) Institute of Computational Biology (ICB)

Grants Predoctoral program 'Joan Oro' of the Secretary of Universities and Research of the Department of Research and Universities of the Government of Catalonia
ERN ITHACA
ERN RND
ERN EURO-NMD
ERN GENTURIS
ERN EpiCARE
ERN RITA
EU
European Union's Horizon Europe research and innovation program
Deutsche Forschungsgemeinschaft (German Research Foundation)
ZonMw (the Netherlands Organisation for Health Research and Development) Vici grant
European Union's Horizon 2020 research and innovation program