ArticleEuropean journal of human genetics : EJHG2021
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
Article in European journal of human genetics : EJHG, 2021. 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 69 papers.
What it found
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The trial behind it
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Who cites it
69 citing papers in PubMed.
- Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.Genome medicine · 2025Trial
- Artificial Intelligence in Neuromuscular Diseases: Opportunities for a Data-Scarce Field.Neurology and therapy · 2026Review
- T-rex: standardized analysis of germline variants in whole-exome sequencing trios.Scientific reports · 2026Article
- Advancing the diagnosis of rare neuromuscular and neurological diseases through the collaborative Solve-RD research framework.Journal of neuromuscular diseases · 2026Review
- Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.JCO precision oncology · 2026Article
- Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.Nature communications · 2026Article
- A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy.European journal of human genetics : EJHG · 2026Article
- E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29-30 October 2021: Remote Monitoring: New Solutions for New Avenues in Neuromuscular Disorders.Journal of neuromuscular diseases · 2026Article
- Integrating AI and RNA biomarkers in cancer: advances in diagnostics and targeted therapies.Cell communication and signaling : CCS · 2025Review
- The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.Nature genetics · 2025Review
- Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.Nature communications · 2025Article
- Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.Brain : a journal of neurology · 2025Article
- Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience.American journal of human genetics · 2025Article
- Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.Nature genetics · 2025Article
- MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods.NAR genomics and bioinformatics · 2025Article
- Systematic analysis of genetic and phenotypic characteristics reveals antisense oligonucleotide therapy potential for one-third of neurodevelopmental disorders.Genome medicine · 2025Article
- An exploratory study combining Virtual Reality and Semantic Web for life science research using Graph2VR.Database : the journal of biological databases and curation · 2025Article
- Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.European journal of human genetics : EJHG · 2025Article
- Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.Nature medicine · 2025Article
- Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.Journal of neurology · 2025Article
9 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
30 authors.
Funding
Abstract
For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe.
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