ArticleHuman mutation2022
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
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Article in Human mutation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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52citing papers in PubMed
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Who cites it
52 citing papers in PubMed.
- A Variant in Abhydrolase Domain Containing 14A (JIMD reports · 2026Article
- Mapping the path to clinical implementation of multi-omics.Nature genetics · 2026Review
- Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.Journal of neurology · 2026Article
- Advancing the diagnosis of rare neuromuscular and neurological diseases through the collaborative Solve-RD research framework.Journal of neuromuscular diseases · 2026Review
- De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.Nature communications · 2026Article
- FAIR in practice: minimum metadata schema for bioinformatics analytics by machines.Journal of biomedical semantics · 2026Article
- A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort.European journal of human genetics : EJHG · 2026Article
- Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.Nature communications · 2026Article
- Modifier variants in metabolic pathways are associated with an increased penetrance of Leber's Hereditary Optic Neuropathy.European journal of human genetics : EJHG · 2026Article
- Identification of a Novel VLDLR Variant in the First Report of CAMRQ1 From Africa: Expanding the Spectrum of Cerebellar Ataxia Syndromes.Human mutation · 2026Article
- Article
- The continued promise of genomic technologies and software in neurogenetics.Journal of neuromuscular diseases · 2025Review
- An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser.Genome medicine · 2025Article
- The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.Nature genetics · 2025Review
- Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle.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
- A Brief Review of Inherited Neuropathies: A Perspective from Saudi Arabia.Brain sciences · 2025Review
- Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.Genome research · 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
Corrections and comments
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Authors and funding
52 authors.
Steven LaurieCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0003-3913-5829
Davide PisciaCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0002-0468-0408
Leslie MatalongaCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0003-0807-2570
Alberto CorvóCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0003-0174-2818
Marcos Fernández-CallejoCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0002-9968-3766
Carles Garcia-LinaresCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0002-0558-2498
Carles Hernandez-FerrerCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0002-8029-7160
Cristina LuengoCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0003-1612-8706
Inés MartínezCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0002-2062-3120
Anastasios PapakonstantinouCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0003-4301-3859
Daniel Picó-AmadorCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0001-5254-2184
Joan ProtasioCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0001-6342-8096
Rachel ThompsonChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.ORCID 0000-0002-6889-0121
Raul TondaCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0001-7893-2404
Mònica BayésCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0002-8271-3076
Gemma BullichCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0002-0737-4422
Jordi Camps-PuchadasCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0001-8763-9947
Ida ParamonovCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0001-8666-6054
Jean-Rémi TrottaCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0001-9548-8165
Angel AlonsoGenomic Medicine Unit, Navarrabiomed-Universidad Pública de Navarra (UPNA)-Hospital Universitario de Navarra (HUN), IdiSNA, Pamplona, Navarra, Spain.ORCID 0000-0001-5111-310X
Marcella AttimonelliDepartment of Biosciences, Biotechnology and Biopharmaceutics, University of A. Moro, Bari, Italy.ORCID 0000-0003-2091-8364
Christophe BéroudINSERM, Marseille Medical Genetics, Aix Marseille University, Marseille, France.ORCID 0000-0003-2986-8738
Virginie Bros-FacerEURORDIS-Rare Diseases Europe.
Orion J BuskePhenotips, Toronto, Ontario, Canada.ORCID 0000-0002-9064-092X
Andrés Cañada-PallarésORCID 0000-0003-1284-3737
José M FernándezBarcelona Supercomputing Center, Spain.ORCID 0000-0002-4806-5140
Mats G HanssonCentre for Research Ethics & Bioethics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden.ORCID 0000-0002-4053-8468
Rita HorvathDepartment of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.ORCID 0000-0002-9841-170X
Julius O B JacobsenQueen Mary University of London, William Harvey Research Institute, London, UK.ORCID 0000-0002-3265-1591
Rajaram KaliyaperumalLeiden University Medical Center, Leiden, The Netherlands.ORCID 0000-0002-1215-167X
Séverine Lair-PréterreCHU Rouen, Rouen, France.
Luana LicataDepartment of Biology, University of Rome Tor Vergata, Rome, Italy.ORCID 0000-0001-5084-9000
Pedro LopesIEETA, Aveiro, Portugal.ORCID 0000-0001-5330-6562
Estrella López-MartínInstitute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.ORCID 0000-0003-3212-1424
Deborah MascalzoniCRB-Center for Ethics and Bioethics, Uppsala University, Sweden.ORCID 0000-0003-4156-1464
Lucia MonacoFondazione Telethon, Milan, Italy.ORCID 0000-0001-5620-1790
Luis A Pérez-JuradoGenetics Unit, Departament de Medicina i Ciències de la Vida, Universitat Pompeu Fabra, Barcelona, Spain.
Manuel Posada de la PazInstitute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.ORCID 0000-0002-8372-4180
Jordi RamblaCentre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.ORCID 0000-0001-9091-257X
Ana RathINSERM, US-14 Orphanet, Paris, France.ORCID 0000-0003-4308-6337
Olaf RiessInstitute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID 0000-0002-7011-1369
Peter N RobinsonThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0002-0736-9199
David SalgadoINSERM, Marseille Medical Genetics, Aix Marseille University, Marseille, France.
Damian SmedleyQueen Mary University of London, William Harvey Research Institute, London, UK.ORCID 0000-0002-5836-9850
Dylan SpaldingEuropean Molecular Biology Laboratory-European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, UK.ORCID 0000-0002-4285-2493
Peter A C 't HoenCenter for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0003-4450-3112
Ana TöpfJohn Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK.ORCID 0000-0002-9227-2526
Irina ZaharievaUCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Unit, London, UK.ORCID 0000-0002-7663-6297
Holm GraessnerInstitute for Medical Genetics and Applied Genomics, Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany.ORCID 0000-0001-9803-7183
Ivo G GutCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0001-7219-632X
Hanns LochmüllerCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0003-2324-8001
Sergi BeltranCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0002-2810-3445
Funding
Increasing the Yield and Utility of Pediatric Genomic Medicine with ExomiserR01HD103805 · NICHD · JACKSON LABORATORY · PI Valentina Cipriani, CHRISTOPHER J MUNGALL · 2021 to 2026
$4.3MNICHD NIH HHS R01 HD103805
Abstract
Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because the methods used missed the molecular cause in a known gene, or a novel causative gene could not be identified and/or confirmed. To address these challenges, the RD-Connect Genome-Phenome Analysis Platform (GPAP) facilitates the collation, discovery, sharing, and analysis of standardized genome-phenome data within a collaborative environment. Authorized clinicians and researchers submit pseudonymised phenotypic profiles encoded using the Human Phenotype Ontology, and raw genomic data which is processed through a standardized pipeline. After an optional embargo period, the data are shared with other platform users, with the objective that similar cases in the system and queries from peers may help diagnose the case. Additionally, the platform enables bidirectional discovery of similar cases in other databases from the Matchmaker Exchange network. To facilitate genome-phenome analysis and interpretation by clinical researchers, the RD-Connect GPAP provides a powerful user-friendly interface and leverages tens of information sources. As a result, the resource has already helped diagnose hundreds of rare disease patients and discover new disease causing genes.
Indexed as
GenomicsRare DiseasesExomeGenetic Association StudiesHumansPhenotypedata sharingdata standardizationdiagnosticsgenome analysisNGSpatient matchmakingrare diseases
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