Sökning: onr:"swepub:oai:DiVA.org:uu-476113" > The RD-Connect Geno...
Fältnamn | Indikatorer | Metadata |
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000 | 10887naa a2201009 4500 | |
001 | oai:DiVA.org:uu-476113 | |
003 | SwePub | |
008 | 220608s2022 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4761132 URI |
024 | 7 | a https://doi.org/10.1002/humu.243532 DOI |
040 | a (SwePub)uu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Laurie, Stevenu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut |
245 | 1 0 | a The RD-Connect Genome-Phenome Analysis Platform :b Accelerating diagnosis, research, and gene discovery for rare diseases |
264 | c 2022-02-17 | |
264 | 1 | b John Wiley & Sons,c 2022 |
338 | a electronic2 rdacarrier | |
520 | a 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. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
653 | a data sharing | |
653 | a data standardization | |
653 | a diagnostics | |
653 | a genome analysis | |
653 | a NGS | |
653 | a patient matchmaking | |
653 | a rare diseases | |
700 | 1 | a Piscia, Davideu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut |
700 | 1 | a Matalonga, Leslieu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut |
700 | 1 | a Corvo, Albertou Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut |
700 | 1 | a Fernandez-Callejo, Marcosu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut |
700 | 1 | a Garcia-Linares, Carlesu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.;European Mol Biol Lab European Bioinformat Inst E, Wellcome Genome Campus, Hinxton, England.4 aut |
700 | 1 | a Hernandez-Ferrer, Carlesu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut |
700 | 1 | a Luengo, Cristinau Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut |
700 | 1 | a Martinez, Inesu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut |
700 | 1 | a Papakonstantinou, Anastasiosu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut |
700 | 1 | a Pico-Amador, Danielu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut |
700 | 1 | a Protasio, Joanu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut |
700 | 1 | a Thompson, Rachelu Childrens Hosp Eastern Ontario Res Inst, Ottawa, ON, Canada.4 aut |
700 | 1 | a Tonda, Raulu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut |
700 | 1 | a Bayes, Monicau Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut |
700 | 1 | a Bullich, Gemmau Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut |
700 | 1 | a Camps-Puchadas, Jordiu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut |
700 | 1 | a Paramonov, Idau Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut |
700 | 1 | a Trotta, Jean-Remiu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut |
700 | 1 | a Alonso, Angelu Navarrabiomed Univ Publ Navarra UPNA Hosp Univ Na, Genom Med Unit, IdiSNA, Navarra, Spain.4 aut |
700 | 1 | a Attimonelli, Marcellau Univ A Moro, Dept Biosci Biotechnol & Biopharmaceut, Bari, Italy.4 aut |
700 | 1 | a Beroud, Christopheu Aix Marseille Univ, Marseille Med Genet, INSERM, Marseille, France.;Hop Enfants La Timone, AP HM, Dept Genet Med, Marseille, France.4 aut |
700 | 1 | a Bros-Facer, Virginieu EURORDIS Rare Dis Europe, Paris, France.4 aut |
700 | 1 | a Buske, Orion J.u Phenotips, Toronto, ON, Canada.4 aut |
700 | 1 | a Canada-Pallares, Andres4 aut |
700 | 1 | a Fernandez, Jose M.u Barcelona Supercomp Ctr, Barcelona, Spain.4 aut |
700 | 1 | a Hansson, Mats G.,d 1952-u Uppsala universitet,Centrum för forsknings- och bioetik4 aut0 (Swepub:uu)matshans |
700 | 1 | a Horvath, Ritau Univ Cambridge, Dept Clin Neurosci, Cambridge, England.4 aut |
700 | 1 | a Jacobsen, Julius O. B.u Queen Mary Univ London, William Harvey Res Inst, London, England.4 aut |
700 | 1 | a Kaliyaperumal, Rajaramu Leiden Univ Med Ctr, Leiden, Netherlands.4 aut |
700 | 1 | a Lair-Preterre, Severineu CHU Rouen, Rouen, France.4 aut |
700 | 1 | a Licata, Luanau Univ Roma Tor Vergata, Dept Biol, Rome, Italy.;Fdn Human Technopole, Milan, Italy.4 aut |
700 | 1 | a Lopes, Pedrou IEETA, Aveiro, Portugal.4 aut |
700 | 1 | a Lopez-Martin, Estrellau Inst Salud Carlos III, Inst Rare Dis Res, Spanish Undiagnosed Rare Dis Cases Program SpainU, Madrid, Spain.;Inst Salud Carlos III, Undiagnosed Dis Network Int UDNI, Madrid, Spain.4 aut |
700 | 1 | a Mascalzoni, Deborah,d 1973-u Uppsala universitet,Centrum för forsknings- och bioetik,Eurac Res Bolzano, Milan, Italy.4 aut0 (Swepub:uu)debma696 |
700 | 1 | a Monaco, Luciau Fdn Telethon, Milan, Italy.4 aut |
700 | 1 | a Perez-Jurado, Luis A.u Univ Pompeu Fabra, Dept Med & Ciencies Vida, Genet Unit, Barcelona, Spain.;Hosp del Mar, Genet Serv, Barcelona, Spain.;Hosp del Mar Res Inst IMIM, Barcelona, Spain.;Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain.4 aut |
700 | 1 | a Posada de la Paz, Manuelu Inst Salud Carlos III, Inst Rare Dis Res, Spanish Undiagnosed Rare Dis Cases Program SpainU, Madrid, Spain.;Inst Salud Carlos III, Undiagnosed Dis Network Int UDNI, Madrid, Spain.4 aut |
700 | 1 | a Rambla, Jordiu Barcelona Inst Sci & Technol, Ctr Genom Regulat CRG, Barcelona, Spain.;Univ Pompeu Fabra UPF, Barcelona, Spain.4 aut |
700 | 1 | a Rath, Anau INSERM, US 14 Orphanet, Paris, France.4 aut |
700 | 1 | a Riess, Olafu Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany.4 aut |
700 | 1 | a Robinson, Peter N.u Jackson Lab Genom Med, Farmington, CT USA.4 aut |
700 | 1 | a Salgado, Davidu Aix Marseille Univ, Marseille Med Genet, INSERM, Marseille, France.;CNRS, IFB Core, Inst Francais Bioinformat, Evry, France.4 aut |
700 | 1 | a Smedley, Damianu Queen Mary Univ London, William Harvey Res Inst, London, England.4 aut |
700 | 1 | a Spalding, Dylanu European Mol Biol Lab European Bioinformat Inst E, Wellcome Genome Campus, Hinxton, England.;CSC IT Ctr Sci, Life Sci Ctr, Espoo, Finland.4 aut |
700 | 1 | a 't Hoen, Peter A. C.u Radboud Univ Nijmegen Med Ctr, Ctr Mol & Biomol Informat, Radboud Inst Mol Life Sci, Nijmegen, Netherlands.4 aut |
700 | 1 | a Topf, Anau Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Newcastle Upon Tyne, Tyne & Wear, England.;Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England.4 aut |
700 | 1 | a Zaharieva, Irinau UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Unit, London, England.4 aut |
700 | 1 | a Graessner, Holmu Univ Hosp Tubingen, Ctr Rare Dis, Inst Med Genet & Appl Genom, Tubingen, Germany.;European Reference Network Rare Neurol Dis, Tubingen, Germany.4 aut |
700 | 1 | a Gut, Ivo G.u Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.;Univ Pompeu Fabra UPF, Barcelona, Spain.4 aut |
700 | 1 | a Lochmuller, Hannsu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.;Childrens Hosp Eastern Ontario Res Inst, Ottawa, ON, Canada.;Ottawa Hosp, Dept Med, Div Neurol, Ottawa, ON, Canada.;Univ Ottawa, Brain & Mind Res Inst, Ottawa, ON, Canada.;Univ Freiburg, Fac Med, Dept Neuropediat & Muscle Disorders, Med Ctr, Freiburg, Germany.4 aut |
700 | 1 | a Beltran, Sergiu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.;Univ Pompeu Fabra UPF, Barcelona, Spain.;Univ Barcelona UB, Fac Biol, Dept Genet Microbiol & Estat, Barcelona, Spain.4 aut |
710 | 2 | a Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.b Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.;European Mol Biol Lab European Bioinformat Inst E, Wellcome Genome Campus, Hinxton, England.4 org |
773 | 0 | t Human Mutationd : John Wiley & Sonsg 43:6, s. 717-733q 43:6<717-733x 1059-7794x 1098-1004 |
856 | 4 | u https://doi.org/10.1002/humu.24353y Fulltext |
856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1666087/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-476113 |
856 | 4 8 | u https://doi.org/10.1002/humu.24353 |
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