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Sökning: onr:"swepub:oai:DiVA.org:uu-476113" > The RD-Connect Geno...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00010887naa a2201009 4500
001oai:DiVA.org:uu-476113
003SwePub
008220608s2022 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4761132 URI
0247 a https://doi.org/10.1002/humu.243532 DOI
040 a (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Laurie, Stevenu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut
2451 0a The RD-Connect Genome-Phenome Analysis Platform :b Accelerating diagnosis, research, and gene discovery for rare diseases
264 c 2022-02-17
264 1b 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 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a 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
7001 a Piscia, Davideu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut
7001 a Matalonga, Leslieu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut
7001 a Corvo, Albertou Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut
7001 a Fernandez-Callejo, Marcosu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut
7001 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
7001 a Hernandez-Ferrer, Carlesu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut
7001 a Luengo, Cristinau Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut
7001 a Martinez, Inesu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut
7001 a Papakonstantinou, Anastasiosu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut
7001 a Pico-Amador, Danielu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut
7001 a Protasio, Joanu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut
7001 a Thompson, Rachelu Childrens Hosp Eastern Ontario Res Inst, Ottawa, ON, Canada.4 aut
7001 a Tonda, Raulu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut
7001 a Bayes, Monicau Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut
7001 a Bullich, Gemmau Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut
7001 a Camps-Puchadas, Jordiu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut
7001 a Paramonov, Idau Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut
7001 a Trotta, Jean-Remiu Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Baldiri Reixac 4, Barcelona 08028, Spain.4 aut
7001 a Alonso, Angelu Navarrabiomed Univ Publ Navarra UPNA Hosp Univ Na, Genom Med Unit, IdiSNA, Navarra, Spain.4 aut
7001 a Attimonelli, Marcellau Univ A Moro, Dept Biosci Biotechnol & Biopharmaceut, Bari, Italy.4 aut
7001 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
7001 a Bros-Facer, Virginieu EURORDIS Rare Dis Europe, Paris, France.4 aut
7001 a Buske, Orion J.u Phenotips, Toronto, ON, Canada.4 aut
7001 a Canada-Pallares, Andres4 aut
7001 a Fernandez, Jose M.u Barcelona Supercomp Ctr, Barcelona, Spain.4 aut
7001 a Hansson, Mats G.,d 1952-u Uppsala universitet,Centrum för forsknings- och bioetik4 aut0 (Swepub:uu)matshans
7001 a Horvath, Ritau Univ Cambridge, Dept Clin Neurosci, Cambridge, England.4 aut
7001 a Jacobsen, Julius O. B.u Queen Mary Univ London, William Harvey Res Inst, London, England.4 aut
7001 a Kaliyaperumal, Rajaramu Leiden Univ Med Ctr, Leiden, Netherlands.4 aut
7001 a Lair-Preterre, Severineu CHU Rouen, Rouen, France.4 aut
7001 a Licata, Luanau Univ Roma Tor Vergata, Dept Biol, Rome, Italy.;Fdn Human Technopole, Milan, Italy.4 aut
7001 a Lopes, Pedrou IEETA, Aveiro, Portugal.4 aut
7001 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
7001 a Mascalzoni, Deborah,d 1973-u Uppsala universitet,Centrum för forsknings- och bioetik,Eurac Res Bolzano, Milan, Italy.4 aut0 (Swepub:uu)debma696
7001 a Monaco, Luciau Fdn Telethon, Milan, Italy.4 aut
7001 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
7001 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
7001 a Rambla, Jordiu Barcelona Inst Sci & Technol, Ctr Genom Regulat CRG, Barcelona, Spain.;Univ Pompeu Fabra UPF, Barcelona, Spain.4 aut
7001 a Rath, Anau INSERM, US 14 Orphanet, Paris, France.4 aut
7001 a Riess, Olafu Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany.4 aut
7001 a Robinson, Peter N.u Jackson Lab Genom Med, Farmington, CT USA.4 aut
7001 a Salgado, Davidu Aix Marseille Univ, Marseille Med Genet, INSERM, Marseille, France.;CNRS, IFB Core, Inst Francais Bioinformat, Evry, France.4 aut
7001 a Smedley, Damianu Queen Mary Univ London, William Harvey Res Inst, London, England.4 aut
7001 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
7001 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
7001 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
7001 a Zaharieva, Irinau UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Unit, London, England.4 aut
7001 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
7001 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
7001 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
7001 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
7102 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
7730 t Human Mutationd : John Wiley & Sonsg 43:6, s. 717-733q 43:6<717-733x 1059-7794x 1098-1004
8564 u https://doi.org/10.1002/humu.24353y Fulltext
8564 u https://uu.diva-portal.org/smash/get/diva2:1666087/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-476113
8564 8u https://doi.org/10.1002/humu.24353

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