Home > Documents in Process > The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease. > print

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024 7 _ |a 10.1038/s41588-025-02290-3
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024 7 _ |a 1061-4036
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024 7 _ |a 1546-1718
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037 _ _ |a DZNE-2025-01166
041 _ _ |a English
082 _ _ |a 570
100 1 _ |a Yépez, Vicente A
|0 0000-0001-7916-3643
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245 _ _ |a The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
260 _ _ |a London
|c 2025
|b Macmillan Publishers Limited, part of Springer Nature
336 7 _ |a article
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336 7 _ |a ARTICLE
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520 _ _ |a 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.
536 _ _ |a 353 - Clinical and Health Care Research (POF4-353)
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588 _ _ |a Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
650 _ 2 |a Rare Diseases: diagnosis
|2 MeSH
650 _ 2 |a Rare Diseases: genetics
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Europe
|2 MeSH
650 _ 2 |a Genomics: methods
|2 MeSH
650 _ 2 |a Genetic Testing: methods
|2 MeSH
700 1 _ |a Demidov, German
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700 1 _ |a Ellwanger, Kornelia
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700 1 _ |a Laurie, Steven
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700 1 _ |a Luknárová, Rebeka
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700 1 _ |a Joseph Maran, Midhuna Immaculate
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700 1 _ |a Hentrich, Thomas
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700 1 _ |a Sagath, Lydia
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700 1 _ |a van der Sanden, Bart
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700 1 _ |a Astuti, Galuh
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700 1 _ |a Neveling, Kornelia
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700 1 _ |a Batlle-Masó, Laura
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700 1 _ |a Beijer, Danique
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700 1 _ |a Brechtmann, Felix
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700 1 _ |a Caballero-Oteyza, Andrés
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700 1 _ |a Dabad, Marc
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700 1 _ |a Denommé-Pichon, Anne-Sophie
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700 1 _ |a Doornbos, Cenna
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700 1 _ |a Eddafir, Zakaria
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700 1 _ |a Estévez-Arias, Berta
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700 1 _ |a Kilicarslan, Ozge Aksel
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700 1 _ |a Kolen, Ingrid H M
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700 1 _ |a Kraß, Leon
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700 1 _ |a Lohmann, Katja
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700 1 _ |a Londhe, Shubhankar
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700 1 _ |a López-Martín, Estrella
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700 1 _ |a Maassen, Kars
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700 1 _ |a Macken, William
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700 1 _ |a Martínez-Delgado, Beatriz
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700 1 _ |a Mei, Davide
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700 1 _ |a Mertes, Christian
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700 1 _ |a Minardi, Raffaella
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700 1 _ |a Morsy, Heba
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700 1 _ |a Mueller, Juliane S
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700 1 _ |a Natera-de Benito, Daniel
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700 1 _ |a Nelson, Isabelle
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700 1 _ |a Oud, Machteld M
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700 1 _ |a Paramonov, Ida
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700 1 _ |a Picó, Daniel
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700 1 _ |a Piscia, Davide
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700 1 _ |a Polavarapu, Kiran
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700 1 _ |a Raineri, Emanuele
|b 41
700 1 _ |a Savarese, Marco
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700 1 _ |a Smal, Noor
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700 1 _ |a Steehouwer, Marloes
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700 1 _ |a Steyaert, Wouter
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700 1 _ |a Swertz, Morris A
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700 1 _ |a Thomsen, Mirja
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700 1 _ |a Töpf, Ana
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700 1 _ |a Van de Vondel, Liedewei
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700 1 _ |a van der Vries, Gerben
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700 1 _ |a Vitobello, Antonio
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700 1 _ |a Wilke, Carlo
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700 1 _ |a Zurek, Birte
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700 1 _ |a DITF-EPICARE, Solve-RD
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|e Collaboration Author
700 1 _ |a DITF-ITHACA, Solve-RD
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|e Collaboration Author
700 1 _ |a DITF-EURO-NMD, Solve-RD
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700 1 _ |a DITF-RITA, Solve-RD
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700 1 _ |a DITF-RND, Solve-RD
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700 1 _ |a consortium, Solve-RD
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700 1 _ |a T' Hoen, Peter-Bram
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700 1 _ |a Matalonga, Leslie
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700 1 _ |a Vissers, Lisenka E L M
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700 1 _ |a Gilissen, Christian
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700 1 _ |a Schulze-Hentrich, Julia
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700 1 _ |a Beltran, Sergi
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700 1 _ |a Esteve-Codina, Anna
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700 1 _ |a Hoischen, Alexander
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700 1 _ |a Gagneur, Julien
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|b 68
700 1 _ |a Graessner, Holm
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773 _ _ |a 10.1038/s41588-025-02290-3
|g Vol. 57, no. 10, p. 2361 - 2370
|0 PERI:(DE-600)1494946-5
|n 10
|p 2361 - 2370
|t Nature genetics
|v 57
|y 2025
|x 1061-4036
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