ReviewNature genetics2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
Erratum issuedAbstract readReview
In one paragraph
Review in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 3 papers.
0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
3 citing papers in PubMed.
- Caring for Rare Genetic Disease: A Vision for the Future.Journal of genetic counseling · 2026Article
- Advancing the diagnosis of rare neuromuscular and neurological diseases through the collaborative Solve-RD research framework.Journal of neuromuscular diseases · 2026Review
- Knowledge graph visualization and retrospective analysis of genetic research on pediatric cardiomyopathy (2000-2024).Frontiers in cardiovascular medicine · 2026Article
Corrections and comments
- Erratum issued
Authors and funding
70 authors.
Vicente A YépezSchool of Computation, Information and Technology, Technical University of Munich, Garching, Germany.ORCID http://orcid.org/0000-0001-7916-3643
German DemidovInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0001-9075-4276
Kornelia EllwangerInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0003-4845-5795
Steven LaurieCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.ORCID http://orcid.org/0000-0003-3913-5829
Rebeka LuknárováSchool of Computation, Information and Technology, Technical University of Munich, Garching, Germany.ORCID http://orcid.org/0009-0009-9987-8879
Midhuna Immaculate Joseph MaranDepartment of Genetics/Epigenetics, Faculty NT, Saarland University, Saarbrücken, Germany.
Thomas HentrichDepartment of Genetics/Epigenetics, Faculty NT, Saarland University, Saarbrücken, Germany.ORCID http://orcid.org/0000-0002-1488-9096
Lydia SagathDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.
Bart van der SandenDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID http://orcid.org/0000-0003-0546-1351
Galuh AstutiDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.
Kornelia NevelingDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID http://orcid.org/0009-0000-8055-5329
Laura Batlle-MasóInfection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.
Danique BeijerDivision Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
Felix BrechtmannSchool of Computation, Information and Technology, Technical University of Munich, Garching, Germany.ORCID http://orcid.org/0000-0002-0110-152X
Andrés Caballero-OteyzaRESIST-Cluster of Excellence 2155 to Hannover Medical School, Satellite Center Freiburg, Freiburg, Germany.ORCID http://orcid.org/0000-0002-8892-1255
Marc DabadCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.ORCID http://orcid.org/0000-0002-6094-747X
Anne-Sophie Denommé-PichonMedical Genomics, FHU TRANSLAD, Dijon University Hospital, Dijon, France.ORCID http://orcid.org/0000-0002-8986-8222
Cenna DoornbosRadboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.
Zakaria EddafirApplied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.ORCID http://orcid.org/0009-0008-9648-5984
Berta Estévez-AriasNeuromuscular Disorders Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
Ozge Aksel KilicarslanChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Ingrid H M KolenDivision of Neurodegenerative Diseases and Movement Disorders, Department of Neurology, Faculty of Medicine, Heidelberg University Hospital, Heidelberg, Germany.ORCID http://orcid.org/0009-0001-1483-8328
Leon KraßSchool of Computation, Information and Technology, Technical University of Munich, Garching, Germany.ORCID http://orcid.org/0009-0008-9547-1871
Katja LohmannInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Shubhankar LondheSchool of Computation, Information and Technology, Technical University of Munich, Garching, Germany.ORCID http://orcid.org/0000-0002-1220-6650
Estrella López-MartínInstitute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP), Undiagnosed Diseases Network International, Instituto de Salud Carlos III, Madrid, Spain.ORCID http://orcid.org/0000-0003-3212-1424
Kars MaassenDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.ORCID http://orcid.org/0000-0001-7086-0637
William MackenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0003-0612-5819
Beatriz Martínez-DelgadoInstitute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP), Undiagnosed Diseases Network International, Instituto de Salud Carlos III, Madrid, Spain.ORCID http://orcid.org/0000-0001-6834-350X
Davide MeiDepartment of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.ORCID http://orcid.org/0000-0001-6790-6251
Christian MertesSchool of Computation, Information and Technology, Technical University of Munich, Garching, Germany.ORCID http://orcid.org/0000-0002-1091-205X
Raffaella MinardiIRCCS Istituto delle Scienze Neurologiche di Bologna, European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy.
Heba MorsyDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0002-9047-0959
Juliane S MuellerDubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.
Daniel Natera-de BenitoNeuromuscular Disorders Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.ORCID http://orcid.org/0000-0001-7764-2085
Isabelle NelsonCentre de Recherche en Myologie, Institut de Myologie, Inserm, Sorbonne Université, Paris, France.
Machteld M OudDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID http://orcid.org/0000-0003-4864-9346
Ida ParamonovCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.
Daniel PicóCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.ORCID http://orcid.org/0000-0001-5254-2184
Davide PisciaCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.
Kiran PolavarapuChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Emanuele RaineriCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.
Marco SavareseFolkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.
Noor SmalVIB-CMN, Applied and Translational Neurogenomics Group, University of Antwerp, Antwerp, Belgium.
Marloes SteehouwerDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID http://orcid.org/0009-0000-5177-7803
Wouter SteyaertDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.
Morris A SwertzDepartment of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Mirja ThomsenInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Ana TöpfJohn Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Liedewei Van de VondelPeripheral Neuropathy Research Group, University of Antwerp, Antwerp, Belgium.ORCID http://orcid.org/0000-0003-2214-5908
Gerben van der VriesDepartment of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Antonio VitobelloMedical Genomics, FHU TRANSLAD, Dijon University Hospital, Dijon, France.ORCID http://orcid.org/0000-0003-3717-8374
Carlo WilkeDepartment of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Birte ZurekInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
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' HoenRadboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.ORCID http://orcid.org/0000-0003-4450-3112
Leslie MatalongaCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.
Lisenka E L M VissersDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID http://orcid.org/0000-0001-6470-5497
Christian GilissenDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID http://orcid.org/0000-0003-1693-9699
Julia Schulze-HentrichDepartment of Genetics/Epigenetics, Faculty NT, Saarland University, Saarbrücken, Germany.
Sergi BeltranCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.
Anna Esteve-CodinaCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.ORCID http://orcid.org/0000-0003-0361-2873
Alexander HoischenDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID http://orcid.org/0000-0002-8072-4476
Julien GagneurSchool of Computation, Information and Technology, Technical University of Munich, Garching, Germany. gagneur@in.tum.de.ORCID http://orcid.org/0000-0002-8924-8365
Holm GraessnerInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de.ORCID http://orcid.org/0000-0001-9803-7183
Funding
Deutsche Forschungsgemeinschaft (German Research Foundation) 441914366EC | Horizon 2020 Framework Programme (EU Framework Programme for Research and Innovation H2020) 779257Generalitat de Catalunya (Government of Catalonia) FI-1 00075ZonMw (Netherlands Organisation for Health Research and Development) 09150182310053
Abstract
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.
Indexed as
Rare DiseasesEuropeGenetic TestingGenomicsHumans
Identifiers
PMID
40926087What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.