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

Lookup NU author(s): Dr Ana TopfORCiD

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Abstract

© Springer Nature America, Inc. 2025.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.

Publication metadata

Author(s): Yepez VA, Demidov G, Ellwanger K, Laurie S, Luknarova R, Joseph Maran MI, Hentrich T, Sagath L, van der Sanden B, Astuti G, Neveling K, Batlle-Maso L, Beijer D, Brechtmann F, Caballero-Oteyza A, Dabad M, Denomme-Pichon A-S, Doornbos C, Eddafir Z, Estevez-Arias B, Kilicarslan OA, Kolen IHM, Krass L, Lohmann K, Londhe S, Lopez-Martin E, Maassen K, Macken W, Martinez-Delgado B, Mei D, Mertes C, Minardi R, Morsy H, Mueller JS, Natera-de Benito D, Nelson I, Oud MM, Paramonov I, Pico D, Piscia D, Polavarapu K, Raineri E, Savarese M, Smal N, Steehouwer M, Steyaert W, Swertz MA, Thomsen M, Topf A, Van de Vondel L, van der Vries G, Vitobello A, Wilke C, Zurek B, t' Hoen P-B, Matalonga L, Vissers LELM, Gilissen C, Schulze-Hentrich J, Beltran S, Esteve-Codina A, Hoischen A, Gagneur J, Graessner H

Publication type: Article

Publication status: Published

Journal: Nature Genetics

Year: 2025

Pages: epub ahead of print

Online publication date: 09/09/2025

Acceptance date: 08/07/2025

ISSN (print): 1061-4036

ISSN (electronic): 1546-1718

Publisher: Nature Research

URL: https://doi.org/10.1038/s41588-025-02290-3

DOI: 10.1038/s41588-025-02290-3

PubMed id: 40926087

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