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description Publicationkeyboard_double_arrow_right Article , Other literature type 2017 Netherlands, Netherlands, Italy, United Kingdom, United Kingdom, Netherlands, Netherlands, France, United Kingdom, Spain EnglishPublisher:HAL CCSD Funded by:EC | PhenoMeNalEC| PhenoMeNalvan Rijswijk, M; van Rijswijk, M; Beirnaert, C; Beirnaert, C; Caron, C; Cascante, M; Dominguez, V; Dunn, WB; Ebbels, TMD; Giacomoni, F; Gonzalez-Beltran, A; Hankemeier, T; Haug, K; Haug, K; Izquierdo-Garcia, JL; Jimenez, RC; Jimenez, RC; Jourdan, F; Kale, N; Klapa, MI; Kohlbacher, O; Koort, K; Kultima, K; Le Corguillé, G; Moreno, P; Moschonas, NK; Moschonas, NK; Neumann, S; O'Donovan, C; Reczko, M; Rocca-Serra, P; Rosato, A; Rosato, A; Rosato, A; Salek, RM; Salek, RM; Sansone, S-A; Satagopam, V; Schober, D; Shimmo, R; Spicer, RA; Spicer, RA; Spjuth, O; Spjuth, O; Spjuth, O; Thévenot, EA; Thévenot, EA; Viant, MR; Weber, RJM; Willighagen, EL; Willighagen, EL; Zanetti, G; Steinbeck, C; Steinbeck, C;Metabolomics, the youngest of the major omics technologies, is supported by an active community of researchers and infrastructure developers across Europe. To coordinate and focus efforts around infrastructure building for metabolomics within Europe, a workshop on the "Future of metabolomics in ELIXIR" was organised at Frankfurt Airport in Germany. This one-day strategic workshop involved representatives of ELIXIR Nodes, members of the PhenoMeNal consortium developing an e-infrastructure that supports workflow-based metabolomics analysis pipelines, and experts from the international metabolomics community. The workshop established metabolite identification as the critical area, where a maximal impact of computational metabolomics and data management on other fields could be achieved. In particular, the existing four ELIXIR Use Cases, where the metabolomics community - both industry and academia - would benefit most, and which could be exhaustively mapped onto the current five ELIXIR Platforms were discussed. This opinion article is a call for support for a new ELIXIR metabolomics Use Case, which aligns with and complements the existing and planned ELIXIR Platforms and Use Cases. The meeting was funded by PhenoMeNal, European Commission's Horizon2020 programme, grant agreement number 654241 Sí
HAL - UPEC / UPEM; H... arrow_drop_down Europe PubMed CentralArticle . 2017 . Peer-reviewedFull-Text: http://europepmc.org/articles/PMC5627583Data sources: PubMed CentralRecolector de Ciencia Abierta, RECOLECTAArticle . 2017Data sources: Recolector de Ciencia Abierta, RECOLECTAFlore (Florence Research Repository)Article . 2017Data sources: Flore (Florence Research Repository)Oxford University Research Archive; F1000ResearchOther literature type . Article . 2017 . 2018 . Peer-reviewedLicense: CC BYSpiral - Imperial College Digital RepositoryArticle . 2017Data sources: Spiral - Imperial College Digital RepositorySpiral - Imperial College Digital RepositoryArticle . 2017Data sources: Spiral - Imperial College Digital Repositoryadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.euAccess RoutesGreen gold 25 citations 25 popularity Top 10% influence Average impulse Top 10% Powered by BIP!visibility 34visibility views 34 download downloads 65 Powered bymore_vert HAL - UPEC / UPEM; H... arrow_drop_down Europe PubMed CentralArticle . 2017 . Peer-reviewedFull-Text: http://europepmc.org/articles/PMC5627583Data sources: PubMed CentralRecolector de Ciencia Abierta, RECOLECTAArticle . 2017Data sources: Recolector de Ciencia Abierta, RECOLECTAFlore (Florence Research Repository)Article . 2017Data sources: Flore (Florence Research Repository)Oxford University Research Archive; F1000ResearchOther literature type . Article . 2017 . 2018 . Peer-reviewedLicense: CC BYSpiral - Imperial College Digital RepositoryArticle . 2017Data sources: Spiral - Imperial College Digital RepositorySpiral - Imperial College Digital RepositoryArticle . 2017Data sources: Spiral - Imperial College Digital Repositoryadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2016 Spain, Netherlands, Germany, Germany, United Kingdom, Luxembourg, Spain, Sweden, United Kingdom, United Kingdom, United Kingdom EnglishPublisher:Springer Science and Business Media LLC Funded by:EC | BLUEPRINT, EC | SYSMEDIBD, EC | P-MEDICINE +34 projectsEC| BLUEPRINT ,EC| SYSMEDIBD ,EC| P-MEDICINE ,EC| ERA-IB-2 ,EC| PSIMEX ,EC| DECIPHER ,EC| ESGI ,EC| EPIGENESYS ,EC| MEDALL ,EC| ERASYSAPP ,EC| PREDEMICS ,EC| CASYM ,EC| EMIF ,EC| ELIXIR ,EC| MIMOMICS ,EC| TRANSLOCATION ,EC| VPH-SHARE ,EC| BRIDGES ,EC| ASTERIX ,EC| SEMCARE ,EC| IDEAL ,EC| MedBioinformatics ,EC| STATEGRA ,WT| Wellcome Trust Sanger Institute - generic account for deposition of all core- funded research papers ,EC| U-BIOPRED ,EC| ECHO ,WT ,EC| CANCER-ID ,EC| PROTEOMEXCHANGE ,EC| COMBIMS ,EC| ERASYNBIO ,EC| KConnect ,EC| READNA ,EC| PREPARE ,EC| MULTIMOD ,EC| RADIANT ,EC| CHAARMCharles Auffray; Rudi Balling; Inês Barroso; László Bencze; Mikael Benson; Jay M. Bergeron; Enrique Bernal-Delgado; Niklas Blomberg; Christoph Bock; Ana Conesa; Susanna Del Signore; Christophe Delogne; Peter Devilee; Alberto Di Meglio; Marinus J.C. Eijkemans; Paul Flicek; Norbert Graf; Vera Grimm; Henk-Jan Guchelaar; Yike Guo; Ivo Gut; Allan Hanbury; Shahid Hanif; Ralf-Dieter Hilgers; Angel Honrado; D. Rod Hose; Jeanine J. Houwing-Duistermaat; Tim Hubbard; Sophie Helen Janacek; Haralampos Karanikas; Tim Kievits; Manfred Kohler; Andreas Kremer; Jerry Lanfear; Thomas Lengauer; Edith Maes; Theo F. Meert; Werner Müller; Dörthe Nickel; Peter Oledzki; Bertrand Pedersen; Milan Petkovic; Konstantinos Pliakos; Magnus Rattray; Josep Redón Más; Reinhard Schneider; Thierry Sengstag; Xavier Serra-Picamal; Wouter Spek; Lea A. I. Vaas; Okker van Batenburg; Marc Vandelaer; Péter Várnai; Pablo Villoslada; Juan Antonio Vizcaíno; John Peter Mary Wubbe; Gianluigi Zanetti;doi: 10.1186/s13073-016-0323-y , 10.1186/s13073-016-0376-y , 10.18154/rwth-conv-213156 , 10.17863/cam.42076 , 10.18154/rwth-conv-213157
handle: 11858/00-001M-0000-002C-1D02-C , 11858/00-001M-0000-002C-1D04-8 , 1887/99384 , 11858/00-001M-0000-002A-F90A-4 , 11858/00-001M-0000-002A-F908-8 , 1874/337769
pmc: PMC5100330 , PMC4919856
doi: 10.1186/s13073-016-0323-y , 10.1186/s13073-016-0376-y , 10.18154/rwth-conv-213156 , 10.17863/cam.42076 , 10.18154/rwth-conv-213157
handle: 11858/00-001M-0000-002C-1D02-C , 11858/00-001M-0000-002C-1D04-8 , 1887/99384 , 11858/00-001M-0000-002A-F90A-4 , 11858/00-001M-0000-002A-F908-8 , 1874/337769
pmc: PMC5100330 , PMC4919856
Medicine and healthcare are undergoing profound changes. Whole-genome sequencing and high-resolution imaging technologies are key drivers of this rapid and crucial transformation. Technological innovation combined with automation and miniaturization has triggered an explosion in data production that will soon reach exabyte proportions. How are we going to deal with this exponential increase in data production? The potential of "big data" for improving health is enormous but, at the same time, we face a wide range of challenges to overcome urgently. Europe is very proud of its cultural diversity; however, exploitation of the data made available through advances in genomic medicine, imaging, and a wide range of mobile health applications or connected devices is hampered by numerous historical, technical, legal, and political barriers. European health systems and databases are diverse and fragmented. There is a lack of harmonization of data formats, processing, analysis, and data transfer, which leads to incompatibilities and lost opportunities. Legal frameworks for data sharing are evolving. Clinicians, researchers, and citizens need improved methods, tools, and training to generate, analyze, and query data effectively. Addressing these barriers will contribute to creating the European Single Market for health, which will improve health arid healthcare for all Europearis. Funding Agencies|European Union [115568, 603160, 282510, 664691, 115749, 305033, 305397, 288028, 242189, 211601]; European Molecular Biology Laboratory; Wellcome Trust [WT098051]; [115372]; [257082]; [291814]; [291728]; [321567]; [262055]; [115446]; [602552]; [644753]; [634143]; [261357]; [305280]; [115525]; [2011 23 02]; [270089]; [278433]; [602525]; [201418]; [242135]; [260558]; [223411]; [305626]; [115621]; [611388]; [306000]; [354457]; [305564]; [115010]; [269978]
Genome Medicine arrow_drop_down Genome MedicineOther literature type . Article . 2016 . Peer-reviewedEurope PubMed CentralArticle . 2016Full-Text: http://europepmc.org/articles/PMC4919856Data sources: PubMed CentralEurope PubMed CentralArticle . 2016Full-Text: http://europepmc.org/articles/PMC5100330Data sources: PubMed CentralPublikationsserver der RWTH Aachen UniversityArticle . 2016Data sources: Publikationsserver der RWTH Aachen UniversitySpiral - Imperial College Digital RepositoryArticle . 2016Data sources: Spiral - Imperial College Digital RepositoryRecolector de Ciencia Abierta, RECOLECTAArticle . 2016Data sources: Recolector de Ciencia Abierta, RECOLECTARecolector de Ciencia Abierta, RECOLECTA; Digital Repository of University of ZaragozaArticle . 2016License: CC BYThe University of Manchester - Institutional RepositoryArticle . 2016Data sources: The University of Manchester - Institutional RepositoryRecolector de Ciencia Abierta, RECOLECTAArticle . 2016Data sources: Recolector de Ciencia Abierta, RECOLECTAOpen Repository and Bibliography - LuxembourgArticle . 2016Data sources: Open Repository and Bibliography - LuxembourgLUMC Scholarly Publications; NARCISOther literature type . Article . 2016add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.euAccess RoutesGreen gold 206 citations 206 popularity Top 1% influence Top 1% impulse Top 1% Powered by BIP!visibility 31visibility views 31 download downloads 150 Powered bymore_vert Genome Medicine arrow_drop_down Genome MedicineOther literature type . Article . 2016 . Peer-reviewedEurope PubMed CentralArticle . 2016Full-Text: http://europepmc.org/articles/PMC4919856Data sources: PubMed CentralEurope PubMed CentralArticle . 2016Full-Text: http://europepmc.org/articles/PMC5100330Data sources: PubMed CentralPublikationsserver der RWTH Aachen UniversityArticle . 2016Data sources: Publikationsserver der RWTH Aachen UniversitySpiral - Imperial College Digital RepositoryArticle . 2016Data sources: Spiral - Imperial College Digital RepositoryRecolector de Ciencia Abierta, RECOLECTAArticle . 2016Data sources: Recolector de Ciencia Abierta, RECOLECTARecolector de Ciencia Abierta, RECOLECTA; Digital Repository of University of ZaragozaArticle . 2016License: CC BYThe University of Manchester - Institutional RepositoryArticle . 2016Data sources: The University of Manchester - Institutional RepositoryRecolector de Ciencia Abierta, RECOLECTAArticle . 2016Data sources: Recolector de Ciencia Abierta, RECOLECTAOpen Repository and Bibliography - LuxembourgArticle . 2016Data sources: Open Repository and Bibliography - LuxembourgLUMC Scholarly Publications; NARCISOther literature type . Article . 2016add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Other literature type , Article 2022 Spain, Sweden, Spain, Spain, Italy, United Kingdom, NetherlandsPublisher:Hindawi Limited Funded by:EC | NEUROMICS, EC | EJP RD, CIHR +7 projectsEC| NEUROMICS ,EC| EJP RD ,CIHR ,EC| RD-CONNECT ,NIH| Increasing the Yield and Utility of Pediatric Genomic Medicine with Exomiser ,EC| ELIXIR-EXCELERATE ,EC| Solve-RD ,UKRI| New genomic approaches to explore the neurogenetic disease burden of consanguineous marriages in Turkey ,EC| B1MG ,EC| BBMRI-LPCLaurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvó, Alberto; Fernández-Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles; Luengo, Cristina; Martínez, Inés; Papakonstantinou, Anastasios; Picó-Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayés, Mònica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Rémi; Alonso, Angel; Attimonelli, Marcella; Béroud, Christophe; Bros-Facer, Virginie; Buske, Orion J; Cañada-Pallarés, Andrés; Fernández, José M; Hansson, Mats G; Horvath, Rita; Jacobsen, Julius O B; Kaliyaperumal, Rajaram; Lair-Préterre, Séverine; Licata, Luana; Lopes, Pedro; López-Martín, Estrella; Mascalzoni, Deborah; Monaco, Lucia; Pérez-Jurado, Luis A; Posada De la Paz, Manuel; Rambla, Jordi; Rath, Ana; Riess, Olaf; Robinson, Peter N; Salgado, David; Smedley, Damian; Spalding, Dylan; 't Hoen, Peter A C; Töpf, Ana; Zaharieva, Irina; Graessner, Holm; Gut, Ivo G; Lochmüller, Hanns; Beltran, Sergi; Corvo, Alberto; Garcia, Carles; Fernandez‐Callejo, Marcos; Hernandez, Carles; Ntalis, Anastasios Papakonstantinou; Protassio, Joan; Martinez, Ines; Pico, Daniel; Bayes, Monica; Camps, Jordi; Trotta, Jean‐Remi; Bros‐Facer, Virginie; Buske, Orion; Cañada, Andrés; Fernandez, Josè Maria; Hansson, Mats; Jacobsen, Julius; Lair, Severine; López‐Martin, Estrella; Jurado, Luis Pérez; Posada, Manuel; Robinson, Peter; Spalding, Dylan J.; 't Hoen, Peter‐Bram; Gut, Ivo; Lochmúller, Hanns;handle: 20.500.12105/15877 , 20.500.12105/15566 , 1887/3564237 , 2454/43348
pmid: 35178824
pmc: PMC9324157
handle: 20.500.12105/15877 , 20.500.12105/15566 , 1887/3564237 , 2454/43348
pmid: 35178824
pmc: PMC9324157
RD‐Connect (RD‐Connect, an integrated platform connecting registries, biobanks, and clinical bioinformatics) received funding from the Seventh Framework(FP7) Programme of the European Union under grant agreement No305444. Data were analyzed using the RD‐Connect GPAP, which received funding from EU projects Solve‐RD, EJP‐RD (grant numbersH2020 779257, H2020 825575), Instituto de Salud Carlos III (Grant numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática, INB), ELIXIR‐EXCELERATE (Grant number EU H2020#676559) and ELIXIR Implementation Studies (Remote real‐time visualization of human rare disease genomics data (RD‐Connect) stored at the EGA ELIXIR. 2017‐2018; ELIXIR IT‐2017‐INTEGRATION, Rare Disease Infrastructure ELIXIR, 2019‐2020 and the Beacon ELIXIR, 2019‐2021). The RD‐Connect GPAP has leveraged developments funded through project VEIS (001‐P‐001647 co‐financed by the European Regional Development Fund of the European Union in the framework of the Operational Program FEDER of Catalonia 2014‐2020 with the support of the Secretariad' Universitats i Recerca del Departament d'Empresa i Coneixement de la Generalitat de Catalunya) and URD‐Cat (PERIS SLT002/16/00174, Departament de Salut, Generalitat de Catalunya). The research leading to these results has received funding from Consequitur (Newton Fund UK/Turkey, MR/N027302/1), BBMRI‐LPC (EU FP7 #313010), NeurOmics (EU FP7 #305121), the Economic Development Department of the Navarra Government (Grant number 001114112017), the European Reference Networkfor Rare Neurological Diseases (Project ID number 739510) and NIH,National Institute of Child Health and Human Development (1R01HD103805‐01). We acknowledge the support of the Spanish Ministry of Economy, Industry and Competitiveness (MEIC) to the EMBL partnership, the Centro de Excelencia Severo Ochoa, and the CERCA Program/Generalitat de Catalunya. We also acknowledge the support of the Generalitat de Catalunya through Departament de Salut and Departament d'Empresa i Coneixement and Co‐financing by the Spanish Ministry of Economy, Industry and Competitiveness (MEIC) with funds from the European Regional Development Fund (ERDF) corresponding to the 2014‐2020 Smart Growth Operating Program. HL receives support from the Canadian Institutes of Health Research (Foundation Grant FDN‐167281), the Canadian Institutes of Health Research and Muscular Dystrophy Canada (Network Catalyst Grant for NMD4C), the Canada Foundation for Innovation (CFI‐JELF 38412), and the Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health, 950‐232279) 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. Sí
Recolector de Cienci... arrow_drop_down Recolector de Ciencia Abierta, RECOLECTAArticle . 2022Full-Text: https://doi.org/10.1002/humu.24353Data sources: Recolector de Ciencia Abierta, RECOLECTAHuman Mutation; Archivio della Ricerca - Università di Roma Tor vergata; NARCISOther literature type . Article . 2022 . Peer-reviewedLicense: Wiley Online Library User AgreementAcademica-e; Recolector de Ciencia Abierta, RECOLECTAArticle . 2022Full-Text: https://doi.org/10.1002/humu.24353Archivio della Ricerca - Università di Roma Tor vergataArticle . 2022Data sources: Archivio della Ricerca - Università di Roma Tor vergataLUMC Scholarly Publications; Leiden University Scholarly Publications RepositoryOther literature type . 2022add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.euAccess RoutesGreen bronze 9 citations 9 popularity Top 10% influence Average impulse Top 10% Powered by BIP!visibility 42visibility views 42 download downloads 71 Powered bymore_vert Recolector de Cienci... arrow_drop_down Recolector de Ciencia Abierta, RECOLECTAArticle . 2022Full-Text: https://doi.org/10.1002/humu.24353Data sources: Recolector de Ciencia Abierta, RECOLECTAHuman Mutation; Archivio della Ricerca - Università di Roma Tor vergata; NARCISOther literature type . Article . 2022 . Peer-reviewedLicense: Wiley Online Library User AgreementAcademica-e; Recolector de Ciencia Abierta, RECOLECTAArticle . 2022Full-Text: https://doi.org/10.1002/humu.24353Archivio della Ricerca - Università di Roma Tor vergataArticle . 2022Data sources: Archivio della Ricerca - Università di Roma Tor vergataLUMC Scholarly Publications; Leiden University Scholarly Publications RepositoryOther literature type . 2022add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2014 Netherlands, France, France, FrancePublisher:Springer Science and Business Media LLC Funded by:EC | EURENOMICS, EC | RD-CONNECTEC| EURENOMICS ,EC| RD-CONNECTThompson, Rachel; Johnston, Louise; Taruscio, Domenica; Monaco, Lucia; Béroud, Christophe; Gut, Ivo G; Hansson, Mats G; 'T Hoen, Peter-Bram A; Patrinos, George P; Dawkins, Hugh; Ensini, Monica; Zatloukal, Kurt; Koubi, David; Heslop, Emma; Paschall, Justin E; Posada, Manuel; Robinson, Peter N; Bushby, Kate; Lochmuller, Hanns; Gut, Ivo G.; Hansson, Mats G.; ’t Hoen, Peter-Bram A.; Patrinos, George P.; Paschall, Justin E.; Robinson, Peter N.;International audience; Research into rare diseases is typically fragmented by data type and disease. Individual efforts often have poor interoperability and do not systematically connect data across clinical phenotype, genomic data, biomaterial availability, and research/trial data sets. Such data must be linked at both an individual-patient and whole-cohort level to enable researchers to gain a complete view of their disease and patient population of interest. Data access and authorization procedures are required to allow researchers in multiple institutions to securely compare results and gain new insights. Funded by the European Union's Seventh Framework Programme under the International Rare Diseases Research Consortium (IRDiRC), RD-Connect is a global infrastructure project initiated in November 2012 that links genomic data with registries, biobanks, and clinical bioinformatics tools to produce a central research resource for rare diseases.
Journal of General I... arrow_drop_down Journal of General Internal Medicine; NARCISOther literature type . Article . 2014 . Peer-reviewedLicense: Springer TDMadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.euAccess RoutesGreen hybrid 163 citations 163 popularity Top 1% influence Top 1% impulse Top 1% Powered by BIP!more_vert Journal of General I... arrow_drop_down Journal of General Internal Medicine; NARCISOther literature type . Article . 2014 . Peer-reviewedLicense: Springer TDMadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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description Publicationkeyboard_double_arrow_right Article , Other literature type 2017 Netherlands, Netherlands, Italy, United Kingdom, United Kingdom, Netherlands, Netherlands, France, United Kingdom, Spain EnglishPublisher:HAL CCSD Funded by:EC | PhenoMeNalEC| PhenoMeNalvan Rijswijk, M; van Rijswijk, M; Beirnaert, C; Beirnaert, C; Caron, C; Cascante, M; Dominguez, V; Dunn, WB; Ebbels, TMD; Giacomoni, F; Gonzalez-Beltran, A; Hankemeier, T; Haug, K; Haug, K; Izquierdo-Garcia, JL; Jimenez, RC; Jimenez, RC; Jourdan, F; Kale, N; Klapa, MI; Kohlbacher, O; Koort, K; Kultima, K; Le Corguillé, G; Moreno, P; Moschonas, NK; Moschonas, NK; Neumann, S; O'Donovan, C; Reczko, M; Rocca-Serra, P; Rosato, A; Rosato, A; Rosato, A; Salek, RM; Salek, RM; Sansone, S-A; Satagopam, V; Schober, D; Shimmo, R; Spicer, RA; Spicer, RA; Spjuth, O; Spjuth, O; Spjuth, O; Thévenot, EA; Thévenot, EA; Viant, MR; Weber, RJM; Willighagen, EL; Willighagen, EL; Zanetti, G; Steinbeck, C; Steinbeck, C;Metabolomics, the youngest of the major omics technologies, is supported by an active community of researchers and infrastructure developers across Europe. To coordinate and focus efforts around infrastructure building for metabolomics within Europe, a workshop on the "Future of metabolomics in ELIXIR" was organised at Frankfurt Airport in Germany. This one-day strategic workshop involved representatives of ELIXIR Nodes, members of the PhenoMeNal consortium developing an e-infrastructure that supports workflow-based metabolomics analysis pipelines, and experts from the international metabolomics community. The workshop established metabolite identification as the critical area, where a maximal impact of computational metabolomics and data management on other fields could be achieved. In particular, the existing four ELIXIR Use Cases, where the metabolomics community - both industry and academia - would benefit most, and which could be exhaustively mapped onto the current five ELIXIR Platforms were discussed. This opinion article is a call for support for a new ELIXIR metabolomics Use Case, which aligns with and complements the existing and planned ELIXIR Platforms and Use Cases. The meeting was funded by PhenoMeNal, European Commission's Horizon2020 programme, grant agreement number 654241 Sí
HAL - UPEC / UPEM; H... arrow_drop_down Europe PubMed CentralArticle . 2017 . Peer-reviewedFull-Text: http://europepmc.org/articles/PMC5627583Data sources: PubMed CentralRecolector de Ciencia Abierta, RECOLECTAArticle . 2017Data sources: Recolector de Ciencia Abierta, RECOLECTAFlore (Florence Research Repository)Article . 2017Data sources: Flore (Florence Research Repository)Oxford University Research Archive; F1000ResearchOther literature type . Article . 2017 . 2018 . Peer-reviewedLicense: CC BYSpiral - Imperial College Digital RepositoryArticle . 2017Data sources: Spiral - Imperial College Digital RepositorySpiral - Imperial College Digital RepositoryArticle . 2017Data sources: Spiral - Imperial College Digital Repositoryadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.euAccess RoutesGreen gold 25 citations 25 popularity Top 10% influence Average impulse Top 10% Powered by BIP!visibility 34visibility views 34 download downloads 65 Powered bymore_vert HAL - UPEC / UPEM; H... arrow_drop_down Europe PubMed CentralArticle . 2017 . Peer-reviewedFull-Text: http://europepmc.org/articles/PMC5627583Data sources: PubMed CentralRecolector de Ciencia Abierta, RECOLECTAArticle . 2017Data sources: Recolector de Ciencia Abierta, RECOLECTAFlore (Florence Research Repository)Article . 2017Data sources: Flore (Florence Research Repository)Oxford University Research Archive; F1000ResearchOther literature type . Article . 2017 . 2018 . Peer-reviewedLicense: CC BYSpiral - Imperial College Digital RepositoryArticle . 2017Data sources: Spiral - Imperial College Digital RepositorySpiral - Imperial College Digital RepositoryArticle . 2017Data sources: Spiral - Imperial College Digital Repositoryadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2016 Spain, Netherlands, Germany, Germany, United Kingdom, Luxembourg, Spain, Sweden, United Kingdom, United Kingdom, United Kingdom EnglishPublisher:Springer Science and Business Media LLC Funded by:EC | BLUEPRINT, EC | SYSMEDIBD, EC | P-MEDICINE +34 projectsEC| BLUEPRINT ,EC| SYSMEDIBD ,EC| P-MEDICINE ,EC| ERA-IB-2 ,EC| PSIMEX ,EC| DECIPHER ,EC| ESGI ,EC| EPIGENESYS ,EC| MEDALL ,EC| ERASYSAPP ,EC| PREDEMICS ,EC| CASYM ,EC| EMIF ,EC| ELIXIR ,EC| MIMOMICS ,EC| TRANSLOCATION ,EC| VPH-SHARE ,EC| BRIDGES ,EC| ASTERIX ,EC| SEMCARE ,EC| IDEAL ,EC| MedBioinformatics ,EC| STATEGRA ,WT| Wellcome Trust Sanger Institute - generic account for deposition of all core- funded research papers ,EC| U-BIOPRED ,EC| ECHO ,WT ,EC| CANCER-ID ,EC| PROTEOMEXCHANGE ,EC| COMBIMS ,EC| ERASYNBIO ,EC| KConnect ,EC| READNA ,EC| PREPARE ,EC| MULTIMOD ,EC| RADIANT ,EC| CHAARMCharles Auffray; Rudi Balling; Inês Barroso; László Bencze; Mikael Benson; Jay M. Bergeron; Enrique Bernal-Delgado; Niklas Blomberg; Christoph Bock; Ana Conesa; Susanna Del Signore; Christophe Delogne; Peter Devilee; Alberto Di Meglio; Marinus J.C. Eijkemans; Paul Flicek; Norbert Graf; Vera Grimm; Henk-Jan Guchelaar; Yike Guo; Ivo Gut; Allan Hanbury; Shahid Hanif; Ralf-Dieter Hilgers; Angel Honrado; D. Rod Hose; Jeanine J. Houwing-Duistermaat; Tim Hubbard; Sophie Helen Janacek; Haralampos Karanikas; Tim Kievits; Manfred Kohler; Andreas Kremer; Jerry Lanfear; Thomas Lengauer; Edith Maes; Theo F. Meert; Werner Müller; Dörthe Nickel; Peter Oledzki; Bertrand Pedersen; Milan Petkovic; Konstantinos Pliakos; Magnus Rattray; Josep Redón Más; Reinhard Schneider; Thierry Sengstag; Xavier Serra-Picamal; Wouter Spek; Lea A. I. Vaas; Okker van Batenburg; Marc Vandelaer; Péter Várnai; Pablo Villoslada; Juan Antonio Vizcaíno; John Peter Mary Wubbe; Gianluigi Zanetti;doi: 10.1186/s13073-016-0323-y , 10.1186/s13073-016-0376-y , 10.18154/rwth-conv-213156 , 10.17863/cam.42076 , 10.18154/rwth-conv-213157
handle: 11858/00-001M-0000-002C-1D02-C , 11858/00-001M-0000-002C-1D04-8 , 1887/99384 , 11858/00-001M-0000-002A-F90A-4 , 11858/00-001M-0000-002A-F908-8 , 1874/337769
pmc: PMC5100330 , PMC4919856
doi: 10.1186/s13073-016-0323-y , 10.1186/s13073-016-0376-y , 10.18154/rwth-conv-213156 , 10.17863/cam.42076 , 10.18154/rwth-conv-213157
handle: 11858/00-001M-0000-002C-1D02-C , 11858/00-001M-0000-002C-1D04-8 , 1887/99384 , 11858/00-001M-0000-002A-F90A-4 , 11858/00-001M-0000-002A-F908-8 , 1874/337769
pmc: PMC5100330 , PMC4919856
Medicine and healthcare are undergoing profound changes. Whole-genome sequencing and high-resolution imaging technologies are key drivers of this rapid and crucial transformation. Technological innovation combined with automation and miniaturization has triggered an explosion in data production that will soon reach exabyte proportions. How are we going to deal with this exponential increase in data production? The potential of "big data" for improving health is enormous but, at the same time, we face a wide range of challenges to overcome urgently. Europe is very proud of its cultural diversity; however, exploitation of the data made available through advances in genomic medicine, imaging, and a wide range of mobile health applications or connected devices is hampered by numerous historical, technical, legal, and political barriers. European health systems and databases are diverse and fragmented. There is a lack of harmonization of data formats, processing, analysis, and data transfer, which leads to incompatibilities and lost opportunities. Legal frameworks for data sharing are evolving. Clinicians, researchers, and citizens need improved methods, tools, and training to generate, analyze, and query data effectively. Addressing these barriers will contribute to creating the European Single Market for health, which will improve health arid healthcare for all Europearis. Funding Agencies|European Union [115568, 603160, 282510, 664691, 115749, 305033, 305397, 288028, 242189, 211601]; European Molecular Biology Laboratory; Wellcome Trust [WT098051]; [115372]; [257082]; [291814]; [291728]; [321567]; [262055]; [115446]; [602552]; [644753]; [634143]; [261357]; [305280]; [115525]; [2011 23 02]; [270089]; [278433]; [602525]; [201418]; [242135]; [260558]; [223411]; [305626]; [115621]; [611388]; [306000]; [354457]; [305564]; [115010]; [269978]
Genome Medicine arrow_drop_down Genome MedicineOther literature type . Article . 2016 . Peer-reviewedEurope PubMed CentralArticle . 2016Full-Text: http://europepmc.org/articles/PMC4919856Data sources: PubMed CentralEurope PubMed CentralArticle . 2016Full-Text: http://europepmc.org/articles/PMC5100330Data sources: PubMed CentralPublikationsserver der RWTH Aachen UniversityArticle . 2016Data sources: Publikationsserver der RWTH Aachen UniversitySpiral - Imperial College Digital RepositoryArticle . 2016Data sources: Spiral - Imperial College Digital RepositoryRecolector de Ciencia Abierta, RECOLECTAArticle . 2016Data sources: Recolector de Ciencia Abierta, RECOLECTARecolector de Ciencia Abierta, RECOLECTA; Digital Repository of University of ZaragozaArticle . 2016License: CC BYThe University of Manchester - Institutional RepositoryArticle . 2016Data sources: The University of Manchester - Institutional RepositoryRecolector de Ciencia Abierta, RECOLECTAArticle . 2016Data sources: Recolector de Ciencia Abierta, RECOLECTAOpen Repository and Bibliography - LuxembourgArticle . 2016Data sources: Open Repository and Bibliography - LuxembourgLUMC Scholarly Publications; NARCISOther literature type . Article . 2016add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.euAccess RoutesGreen gold 206 citations 206 popularity Top 1% influence Top 1% impulse Top 1% Powered by BIP!visibility 31visibility views 31 download downloads 150 Powered bymore_vert Genome Medicine arrow_drop_down Genome MedicineOther literature type . Article . 2016 . Peer-reviewedEurope PubMed CentralArticle . 2016Full-Text: http://europepmc.org/articles/PMC4919856Data sources: PubMed CentralEurope PubMed CentralArticle . 2016Full-Text: http://europepmc.org/articles/PMC5100330Data sources: PubMed CentralPublikationsserver der RWTH Aachen UniversityArticle . 2016Data sources: Publikationsserver der RWTH Aachen UniversitySpiral - Imperial College Digital RepositoryArticle . 2016Data sources: Spiral - Imperial College Digital RepositoryRecolector de Ciencia Abierta, RECOLECTAArticle . 2016Data sources: Recolector de Ciencia Abierta, RECOLECTARecolector de Ciencia Abierta, RECOLECTA; Digital Repository of University of ZaragozaArticle . 2016License: CC BYThe University of Manchester - Institutional RepositoryArticle . 2016Data sources: The University of Manchester - Institutional RepositoryRecolector de Ciencia Abierta, RECOLECTAArticle . 2016Data sources: Recolector de Ciencia Abierta, RECOLECTAOpen Repository and Bibliography - LuxembourgArticle . 2016Data sources: Open Repository and Bibliography - LuxembourgLUMC Scholarly Publications; NARCISOther literature type . Article . 2016add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Other literature type , Article 2022 Spain, Sweden, Spain, Spain, Italy, United Kingdom, NetherlandsPublisher:Hindawi Limited Funded by:EC | NEUROMICS, EC | EJP RD, CIHR +7 projectsEC| NEUROMICS ,EC| EJP RD ,CIHR ,EC| RD-CONNECT ,NIH| Increasing the Yield and Utility of Pediatric Genomic Medicine with Exomiser ,EC| ELIXIR-EXCELERATE ,EC| Solve-RD ,UKRI| New genomic approaches to explore the neurogenetic disease burden of consanguineous marriages in Turkey ,EC| B1MG ,EC| BBMRI-LPCLaurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvó, Alberto; Fernández-Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles; Luengo, Cristina; Martínez, Inés; Papakonstantinou, Anastasios; Picó-Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayés, Mònica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Rémi; Alonso, Angel; Attimonelli, Marcella; Béroud, Christophe; Bros-Facer, Virginie; Buske, Orion J; Cañada-Pallarés, Andrés; Fernández, José M; Hansson, Mats G; Horvath, Rita; Jacobsen, Julius O B; Kaliyaperumal, Rajaram; Lair-Préterre, Séverine; Licata, Luana; Lopes, Pedro; López-Martín, Estrella; Mascalzoni, Deborah; Monaco, Lucia; Pérez-Jurado, Luis A; Posada De la Paz, Manuel; Rambla, Jordi; Rath, Ana; Riess, Olaf; Robinson, Peter N; Salgado, David; Smedley, Damian; Spalding, Dylan; 't Hoen, Peter A C; Töpf, Ana; Zaharieva, Irina; Graessner, Holm; Gut, Ivo G; Lochmüller, Hanns; Beltran, Sergi; Corvo, Alberto; Garcia, Carles; Fernandez‐Callejo, Marcos; Hernandez, Carles; Ntalis, Anastasios Papakonstantinou; Protassio, Joan; Martinez, Ines; Pico, Daniel; Bayes, Monica; Camps, Jordi; Trotta, Jean‐Remi; Bros‐Facer, Virginie; Buske, Orion; Cañada, Andrés; Fernandez, Josè Maria; Hansson, Mats; Jacobsen, Julius; Lair, Severine; López‐Martin, Estrella; Jurado, Luis Pérez; Posada, Manuel; Robinson, Peter; Spalding, Dylan J.; 't Hoen, Peter‐Bram; Gut, Ivo; Lochmúller, Hanns;handle: 20.500.12105/15877 , 20.500.12105/15566 , 1887/3564237 , 2454/43348
pmid: 35178824
pmc: PMC9324157
handle: 20.500.12105/15877 , 20.500.12105/15566 , 1887/3564237 , 2454/43348
pmid: 35178824
pmc: PMC9324157
RD‐Connect (RD‐Connect, an integrated platform connecting registries, biobanks, and clinical bioinformatics) received funding from the Seventh Framework(FP7) Programme of the European Union under grant agreement No305444. Data were analyzed using the RD‐Connect GPAP, which received funding from EU projects Solve‐RD, EJP‐RD (grant numbersH2020 779257, H2020 825575), Instituto de Salud Carlos III (Grant numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática, INB), ELIXIR‐EXCELERATE (Grant number EU H2020#676559) and ELIXIR Implementation Studies (Remote real‐time visualization of human rare disease genomics data (RD‐Connect) stored at the EGA ELIXIR. 2017‐2018; ELIXIR IT‐2017‐INTEGRATION, Rare Disease Infrastructure ELIXIR, 2019‐2020 and the Beacon ELIXIR, 2019‐2021). The RD‐Connect GPAP has leveraged developments funded through project VEIS (001‐P‐001647 co‐financed by the European Regional Development Fund of the European Union in the framework of the Operational Program FEDER of Catalonia 2014‐2020 with the support of the Secretariad' Universitats i Recerca del Departament d'Empresa i Coneixement de la Generalitat de Catalunya) and URD‐Cat (PERIS SLT002/16/00174, Departament de Salut, Generalitat de Catalunya). The research leading to these results has received funding from Consequitur (Newton Fund UK/Turkey, MR/N027302/1), BBMRI‐LPC (EU FP7 #313010), NeurOmics (EU FP7 #305121), the Economic Development Department of the Navarra Government (Grant number 001114112017), the European Reference Networkfor Rare Neurological Diseases (Project ID number 739510) and NIH,National Institute of Child Health and Human Development (1R01HD103805‐01). We acknowledge the support of the Spanish Ministry of Economy, Industry and Competitiveness (MEIC) to the EMBL partnership, the Centro de Excelencia Severo Ochoa, and the CERCA Program/Generalitat de Catalunya. We also acknowledge the support of the Generalitat de Catalunya through Departament de Salut and Departament d'Empresa i Coneixement and Co‐financing by the Spanish Ministry of Economy, Industry and Competitiveness (MEIC) with funds from the European Regional Development Fund (ERDF) corresponding to the 2014‐2020 Smart Growth Operating Program. HL receives support from the Canadian Institutes of Health Research (Foundation Grant FDN‐167281), the Canadian Institutes of Health Research and Muscular Dystrophy Canada (Network Catalyst Grant for NMD4C), the Canada Foundation for Innovation (CFI‐JELF 38412), and the Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health, 950‐232279) 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. Sí
Recolector de Cienci... arrow_drop_down Recolector de Ciencia Abierta, RECOLECTAArticle . 2022Full-Text: https://doi.org/10.1002/humu.24353Data sources: Recolector de Ciencia Abierta, RECOLECTAHuman Mutation; Archivio della Ricerca - Università di Roma Tor vergata; NARCISOther literature type . Article . 2022 . Peer-reviewedLicense: Wiley Online Library User AgreementAcademica-e; Recolector de Ciencia Abierta, RECOLECTAArticle . 2022Full-Text: https://doi.org/10.1002/humu.24353Archivio della Ricerca - Università di Roma Tor vergataArticle . 2022Data sources: Archivio della Ricerca - Università di Roma Tor vergataLUMC Scholarly Publications; Leiden University Scholarly Publications RepositoryOther literature type . 2022add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.euAccess RoutesGreen bronze 9 citations 9 popularity Top 10% influence Average impulse Top 10% Powered by BIP!visibility 42visibility views 42 download downloads 71 Powered bymore_vert Recolector de Cienci... arrow_drop_down Recolector de Ciencia Abierta, RECOLECTAArticle . 2022Full-Text: https://doi.org/10.1002/humu.24353Data sources: Recolector de Ciencia Abierta, RECOLECTAHuman Mutation; Archivio della Ricerca - Università di Roma Tor vergata; NARCISOther literature type . Article . 2022 . Peer-reviewedLicense: Wiley Online Library User AgreementAcademica-e; Recolector de Ciencia Abierta, RECOLECTAArticle . 2022Full-Text: https://doi.org/10.1002/humu.24353Archivio della Ricerca - Università di Roma Tor vergataArticle . 2022Data sources: Archivio della Ricerca - Università di Roma Tor vergataLUMC Scholarly Publications; Leiden University Scholarly Publications RepositoryOther literature type . 2022add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2014 Netherlands, France, France, FrancePublisher:Springer Science and Business Media LLC Funded by:EC | EURENOMICS, EC | RD-CONNECTEC| EURENOMICS ,EC| RD-CONNECTThompson, Rachel; Johnston, Louise; Taruscio, Domenica; Monaco, Lucia; Béroud, Christophe; Gut, Ivo G; Hansson, Mats G; 'T Hoen, Peter-Bram A; Patrinos, George P; Dawkins, Hugh; Ensini, Monica; Zatloukal, Kurt; Koubi, David; Heslop, Emma; Paschall, Justin E; Posada, Manuel; Robinson, Peter N; Bushby, Kate; Lochmuller, Hanns; Gut, Ivo G.; Hansson, Mats G.; ’t Hoen, Peter-Bram A.; Patrinos, George P.; Paschall, Justin E.; Robinson, Peter N.;International audience; Research into rare diseases is typically fragmented by data type and disease. Individual efforts often have poor interoperability and do not systematically connect data across clinical phenotype, genomic data, biomaterial availability, and research/trial data sets. Such data must be linked at both an individual-patient and whole-cohort level to enable researchers to gain a complete view of their disease and patient population of interest. Data access and authorization procedures are required to allow researchers in multiple institutions to securely compare results and gain new insights. Funded by the European Union's Seventh Framework Programme under the International Rare Diseases Research Consortium (IRDiRC), RD-Connect is a global infrastructure project initiated in November 2012 that links genomic data with registries, biobanks, and clinical bioinformatics tools to produce a central research resource for rare diseases.
Journal of General I... arrow_drop_down Journal of General Internal Medicine; NARCISOther literature type . Article . 2014 . Peer-reviewedLicense: Springer TDMadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.euAccess RoutesGreen hybrid 163 citations 163 popularity Top 1% influence Top 1% impulse Top 1% Powered by BIP!more_vert Journal of General I... arrow_drop_down Journal of General Internal Medicine; NARCISOther literature type . Article . 2014 . Peer-reviewedLicense: Springer TDMadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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