Yépez Vicente A, Demidov German, Ellwanger Kornelia, Laurie Steven, Luknárová Rebeka, Joseph Maran Midhuna Immaculate, Hentrich Thomas, Sagath Lydia, van der Sanden Bart, Astuti Galuh, Neveling Kornelia, Batlle-Masó Laura, Beijer Danique, Brechtmann Felix, Caballero-Oteyza Andrés, Dabad Marc, Denommé-Pichon Anne-Sophie, Doornbos Cenna, Eddafir Zakaria, Estévez-Arias Berta, Kilicarslan Ozge Aksel, Kolen Ingrid H M, Kraß Leon, Lohmann Katja, Londhe Shubhankar, López-Martín Estrella, Maassen Kars, Macken William, Martínez-Delgado Beatriz, Mei Davide, Mertes Christian, Minardi Raffaella, Morsy Heba, Mueller Juliane S, Natera-de Benito Daniel, Nelson Isabelle, Oud Machteld M, Paramonov Ida, Picó Daniel, Piscia Davide, Polavarapu Kiran, Raineri Emanuele, Savarese Marco, Smal Noor, Steehouwer Marloes, Steyaert Wouter, Swertz Morris A, Thomsen Mirja, Töpf Ana, Van de Vondel Liedewei, van der Vries Gerben, Vitobello Antonio, Wilke Carlo, Zurek Birte, T' Hoen Peter-Bram, Matalonga Leslie, Vissers Lisenka E L M, Gilissen Christian, Schulze-Hentrich Julia, Beltran Sergi, Esteve-Codina Anna, Hoischen Alexander, Gagneur Julien, Graessner Holm
School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Nat Genet. 2025 Sep 9. doi: 10.1038/s41588-025-02290-3.
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.
尽管基因组诊断取得了进展，但大多数罕见病患者仍未得到确诊的基因诊断结果。长读长基因组测序、光学基因组图谱绘制和多组学分析等先进组学技术的迅速出现，提高了诊断率，但也大幅增加了分析和解释的复杂性。正如最近有针对性的诊断研讨会所表明的那样，应对这种复杂性需要系统的多学科协作。在这里，我们重点介绍泛欧项目Solve-RD联盟在实施四个名为“解决马拉松”的结构化研讨会方面的经验，这些研讨会是其运营工作流程中常规且有效的组成部分。我们为大型研究联盟内成功的数据整合、专家培训和可扩展的协作诊断提供了可行的见解、最佳实践和经验教训。
