ArticleGenome research2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.
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Article in Genome research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32citing papers in PubMed
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32 citing papers in PubMed.
- Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.European journal of human genetics : EJHG · 2026Article
- An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2026Article
- Advances in Primary Mitochondrial Diseases: Diagnosis, Natural History Studies and Clinical Trials.Genes · 2026Review
- Advancing the diagnosis of rare neuromuscular and neurological diseases through the collaborative Solve-RD research framework.Journal of neuromuscular diseases · 2026Review
- The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.Human genetics · 2026Article
- Near-perfect genome sequencing in medical genetics.Nature genetics · 2026Review
- Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.medRxiv : the preprint server for health sciences · 2026Article
- Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder.Neurology. Genetics · 2026Article
- The utility and advantages of exome and genome sequencing in pediatric kidney disease diagnosis.Childhood kidney diseases · 2026Review
- Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples.American journal of human genetics · 2026Article
- Mapping functional non-coding variation in individual human genomes through haplotyping, multiomics, and deep learning.Nature communications · 2026Article
- Paternal age effect in autosomal dominant or X-linked de novo variants identified by genome-wide sequencing.HGG advances · 2026Article
- Identification of de novo variants from parent-proband duos via long-read sequencing.American journal of human genetics · 2026Article
- Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis.Bioinformatics (Oxford, England) · 2026Article
- Using the linear references from the pangenome to discover missing autism variants.Nature communications · 2026Article
- Multiplatform comparisons and annotation of structural variants highlight the utility of the T2T reference genome in human diagnostics.GigaScience · 2026Article
- Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.Genetics in medicine open · 2026Article
- Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy.Molecular cytogenetics · 2025Article
- Entering the era of precision medicine to treat amyotrophic lateral sclerosis.Molecular neurodegeneration · 2025Review
Corrections and comments
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Authors and funding
55 authors.
Wouter Steyaert *Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.ORCID 0000-0001-8393-0788
Lydia Sagath *Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.ORCID 0000-0002-6754-3830
German DemidovUniversitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, 72076 Tübingen, Germany.
Vicente A YépezTUM School of Computation, Information and Technology, Technical University of Munich, 85748 Garching, Germany.
Anna Esteve-CodinaCentro Nacional de Análisis Genómico (CNAG), 08028 Barcelona, Spain.
Julien GagneurTUM School of Computation, Information and Technology, Technical University of Munich, 85748 Garching, Germany.ORCID 0000-0002-8924-8365
Kornelia EllwangerUniversitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, 72076 Tübingen, Germany.
Ronny DerksRadboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.
Marjan WeissRadboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.
Amber den OudenRadboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.
Simone van den HeuvelRadboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.
Hilde SwinkelsRadboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.
Nick ZomerRadboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.
Marloes SteehouwerRadboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.
Luke O'GormanRadboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.
Galuh AstutiRadboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.
Kornelia NevelingRadboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.
Rebecca SchüleHertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.
Jishu XuHertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.
Matthis SynofzikHertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.ORCID 0000-0002-2280-7273
Danique BeijerHertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.
Holger HengelHertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.
Ludger SchölsHertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.
Kristl G ClaeysDepartment of Neurology, University Hospitals Leuven, 3000 Leuven, Belgium.
Jonathan BaetsTranslational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.
Liedewei Van de VondelTranslational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.
Alessandra FerliniUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.
Rita SelvaticiUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.
Heba MorsyDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, United Kingdom.
Marwa Saeed Abd ElmaksoudNeurology Unit, Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria 5372066, Egypt.
Volker StraubJohn Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, United Kingdom.ORCID 0000-0001-9046-3540
Juliane MüllerDubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London WC1N 3JH, United Kingdom.
Veronica PiniDubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London WC1N 3JH, United Kingdom.
Luke PerryDubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London WC1N 3JH, United Kingdom.
Anna SarkozyDubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London WC1N 3JH, United Kingdom.
Irina ZaharievaDubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London WC1N 3JH, United Kingdom.
Francesco MuntoniDubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London WC1N 3JH, United Kingdom.ORCID 0000-0002-9102-5232
Enrico BugiardiniDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom.ORCID 0000-0002-9709-6699
Kiran PolavarapuChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON K1H 8L1, Canada.
Rita HorvathDepartment of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0PY, United Kingdom.
Evan ReidCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge CB2 0XY, United Kingdom.
Hanns LochmüllerChildren's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, ON K1H 8M8, Canada.
Marco SpinazziDepartment of Neurology, Centre Hospitalier Universitaire d'Angers, 49933 Angers, France.ORCID 0000-0003-0048-9558
Marco SavareseFolkhälsan Research Center, 00250 Helsinki, Uusimaa, Finland.ORCID 0000-0002-2591-244X
Solve-RD DITF-ITHACA, Solve-RD DITF-Euro-NMD, Solve-RD DITF-RND, Solve-RD DITF-EpiCARE
Leslie MatalongaCentro Nacional de Análisis Genómico (CNAG), 08028 Barcelona, Spain.
Steven LaurieCentro Nacional de Análisis Genómico (CNAG), 08028 Barcelona, Spain.
Han G BrunnerRadboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.
Holm GraessnerUniversitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, 72076 Tübingen, Germany.
Sergi BeltranCentro Nacional de Análisis Genómico (CNAG), 08028 Barcelona, Spain.
Stephan OssowskiUniversitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, 72076 Tübingen, Germany.ORCID 0000-0002-7416-9568
Lisenka E L M VissersRadboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.ORCID 0000-0001-6470-5497
Christian GilissenRadboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.ORCID 0000-0003-1693-9699
Alexander HoischenRadboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands; alexander.hoischen@radboudumc.nl.
Solve-RD consortium
Funding
GENOME STUDIES IN HEREDITARY SPASTIC PARAPLEGIA - beyond the exomeR01NS072248 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Stephan Zuchner · 2011 to 2026
$9.2MNINDS NIH HHS R01 NS072248
Abstract
Solve-RD is a pan-European rare disease (RD) research program that aims to identify disease-causing genetic variants in previously undiagnosed RD families. We utilized 10-fold coverage HiFi long-read sequencing (LRS) for detecting causative structural variants (SVs), single-nucleotide variants (SNVs), insertion-deletions (indels), and short tandem repeat (STR) expansions in previously studied RD families without a clear molecular diagnosis. Our cohort includes 293 individuals from 114 genetically undiagnosed RD families selected by European Reference Network (ERN) experts. Of these, 21 families were affected by so-called "unsolvable" syndromes for which genetic causes remain unknown and for which prior testing was not a prerequisite. The remaining 93 families had at least one individual affected by a rare neurological, neuromuscular, or epilepsy disorder without a genetic diagnosis despite extensive prior testing. Clinical interpretation and orthogonal validation of variants in known disease genes yielded 12 novel genetic diagnoses due to de novo and rare inherited SNVs, indels, SVs, and STR expansions. In an additional five families, we identified a candidate disease-causing variant, including an
Indexed as
Rare DiseasesUndiagnosed DiseasesWhole Genome SequencingFemaleGenome, HumanHumansINDEL MutationMalePedigreePolymorphism, Single Nucleotide
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