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

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...

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Main Authors:	Yépez, Vicente (Author) , Demidov, German (Author) , Ellwanger, Kornelia (Author) , Laurie, Steven (Author) , Luknárová, Rebeka (Author) , Joseph Maran, Midhuna Immaculate (Author) , Hentrich, Thomas (Author) , Sagath, Lydia (Author) , van der Sanden, Bart (Author) , Astuti, Galuh (Author) , Neveling, Kornelia (Author) , Batlle-Masó, Laura (Author) , Beijer, Danique (Author) , Brechtmann, Felix (Author) , Caballero-Oteyza, Andrés (Author) , Dabad, Marc (Author) , Denommé-Pichon, Anne-Sophie (Author) , Doornbos, Cenna (Author) , Eddafir, Zakaria (Author) , Estévez-Arias, Berta (Author) , Kilicarslan, Ozge Aksel (Author) , Kolen, Ingrid (Author) , Kraß, Leon (Author) , Lohmann, Katja (Author) , Londhe, Shubhankar (Author) , López-Martín, Estrella (Author) , Maassen, Kars (Author) , Macken, William (Author) , Martínez-Delgado, Beatriz (Author) , Mei, Davide (Author) , Mertes, Christian (Author) , Minardi, Raffaella (Author) , Morsy, Heba (Author) , Mueller, Juliane S. (Author) , Natera-de Benito, Daniel (Author) , Nelson, Isabelle (Author) , Oud, Machteld M. (Author) , Paramonov, Ida (Author) , Picó, Daniel (Author) , Piscia, Davide (Author) , Polavarapu, Kiran (Author) , Raineri, Emanuele (Author) , Savarese, Marco (Author) , Smal, Noor (Author) , Steehouwer, Marloes (Author) , Steyaert, Wouter (Author) , Swertz, Morris A. (Author) , Thomsen, Mirja (Author) , Töpf, Ana (Author) , Van de Vondel, Liedewei (Author) , van der Vries, Gerben (Author) , Vitobello, Antonio (Author) , Wilke, Carlo (Author) , Zurek, Birte (Author) , t’ Hoen, Peter-Bram (Author) , Matalonga, Leslie (Author) , Vissers, Lisenka E. L. M. (Author) , Gilissen, Christian (Author) , Schulze-Hentrich, Julia (Author) , Beltran, Sergi (Author) , Esteve-Codina, Anna (Author) , Hoischen, Alexander (Author) , Gagneur, Julien (Author) , Graessner, Holm (Author)
Format:	Article (Journal)
Language:	English
Published:	October 2025
In:	Nature genetics Year: 2025, Volume: 57, Issue: 10, Pages: 2361-2370
ISSN:	1546-1718
DOI:	10.1038/s41588-025-02290-3
Online Access:	Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/s41588-025-02290-3 Verlag, lizenzpflichtig, Volltext: https://www.nature.com/articles/s41588-025-02290-3
Author Notes:	Vicente A. Yépez, German Demidov, Kornelia Ellwanger, Steven Laurie, Rebeka Luknárová, Midhuna Immaculate Joseph Maran, Thomas Hentrich, Lydia Sagath, Bart van der Sanden, Galuh Astuti, Kornelia Neveling, Laura Batlle-Masó, Danique Beijer, Felix Brechtmann, Andrés Caballero-Oteyza, Marc Dabad, Anne-Sophie Denommé-Pichon, Cenna Doornbos, Zakaria Eddafir, Berta Estévez-Arias, Ozge Aksel Kilicarslan, Ingrid H.M. Kolen, Leon Kraß, Katja Lohmann, Shubhankar Londhe, Estrella López-Martín, Kars Maassen, William Macken, Beatriz Martínez-Delgado, Davide Mei, Christian Mertes, Raffaella Minardi, Heba Morsy, Juliane S. Mueller, Daniel Natera-de Benito, Isabelle Nelson, Machteld M. Oud, Ida Paramonov, Daniel Picó, Davide Piscia, Kiran Polavarapu, Emanuele Raineri, Marco Savarese, Noor Smal, Marloes Steehouwer, Wouter Steyaert, Morris A. Swertz, Mirja Thomsen, Ana Töpf, Liedewei Van de Vondel, Gerben van der Vries, Antonio Vitobello, Carlo Wilke, Birte Zurek, Solve-RD DITF-EPICARE, Solve-RD DITF-ITHACA, Solve-RD DITF-EURO-NMD, Solve-RD DITF-RITA, Solve-RD DITF-RND, Solve-RD consortium, Peter-Bram t’ Hoen, Leslie Matalonga, Lisenka E.L.M. Vissers, Christian Gilissen, Julia Schulze-Hentrich, Sergi Beltran, Anna Esteve-Codina, Alexander Hoischen, Julien Gagneur & Holm Graessner