The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
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...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Fecha de publicación: | 2022 |
| País: | España |
| Institución: | Instituto de Salud Carlos III (ISCIII) |
| Repositorio: | Repisalud |
| Idioma: | inglés |
| OAI Identifier: | oai:repisalud.isciii.es:20.500.12105/15877 |
| Acceso en línea: | http://hdl.handle.net/20.500.12105/15877 |
| Access Level: | acceso abierto |
| Palabra clave: | Genomics Rare Diseases Exome Genetic Association Studies Humans Phenotype |
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| dc.title.none.fl_str_mv |
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases |
| title |
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases |
| spellingShingle |
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases Laurie, Steven Genomics Rare Diseases Exome Genetic Association Studies Humans Phenotype |
| title_short |
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases |
| title_full |
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases |
| title_fullStr |
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases |
| title_full_unstemmed |
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases |
| title_sort |
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases |
| dc.creator.none.fl_str_mv |
Laurie, Steven Piscia, Davide Matalonga, Leslie Corvó, Alberto Fernández-Callejo, Marcos Garcia-Linares, Carles Hernández-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 Lopez-Martin, Estrella Mascalzoni, Deborah Monaco, Lucia Pérez-Jurado, Luis Alberto 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 |
| author |
Laurie, Steven |
| author_facet |
Laurie, Steven Piscia, Davide Matalonga, Leslie Corvó, Alberto Fernández-Callejo, Marcos Garcia-Linares, Carles Hernández-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 Lopez-Martin, Estrella Mascalzoni, Deborah Monaco, Lucia Pérez-Jurado, Luis Alberto 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 |
| author_role |
author |
| author2 |
Piscia, Davide Matalonga, Leslie Corvó, Alberto Fernández-Callejo, Marcos Garcia-Linares, Carles Hernández-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 Lopez-Martin, Estrella Mascalzoni, Deborah Monaco, Lucia Pérez-Jurado, Luis Alberto 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 |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Unión Europea. Comisión Europea. H2020 Unión Europea. Comisión Europea. 7 Programa Marco Instituto de Salud Carlos III Instituto Nacional de Bioinformatica (España) Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF) Government of Catalonia (España) Gobierno de Navarra (España) NIH - National Institute of Child Health and Human Development (NICHD) (Estados Unidos) Ministerio de Economía, Industria y Competitividad (España) Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España) Canadian Institutes of Health Research |
| dc.subject.none.fl_str_mv |
Genomics Rare Diseases Exome Genetic Association Studies Humans Phenotype |
| topic |
Genomics Rare Diseases Exome Genetic Association Studies Humans Phenotype |
| description |
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. |
| publishDate |
2022 |
| dc.date.none.fl_str_mv |
2022 2022-06-01 2022 2022-06-01 2023 2023-04-24 |
| dc.type.none.fl_str_mv |
research article http://purl.org/coar/resource_type/c_2df8fbb1 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| dc.identifier.none.fl_str_mv |
http://hdl.handle.net/20.500.12105/15877 |
| url |
http://hdl.handle.net/20.500.12105/15877 |
| dc.language.none.fl_str_mv |
Inglés eng |
| language_invalid_str_mv |
Inglés |
| language |
eng |
| dc.relation.none.fl_str_mv |
European Commission http://dx.doi.org/10.13039/501100000780 Horizon 2020 Framework Programme 779257 European Commission http://dx.doi.org/10.13039/501100000780 Seventh Framework Programme 305444 European Commission http://dx.doi.org/10.13039/501100000780 Horizon 2020 Framework Programme 825575 European Commission http://dx.doi.org/10.13039/501100000780 Horizon 2020 Framework Programme 676559 European Commission http://dx.doi.org/10.13039/501100000780 Seventh Framework Programme 313010 European Commission http://dx.doi.org/10.13039/501100000780 Seventh Framework Programme 305121 EC 739510 Not available |
| dc.rights.none.fl_str_mv |
open access http://purl.org/coar/access_right/c_abf2 Atribución 4.0 Internacional http://creativecommons.org/licenses/by/4.0/ |
| dc.rights.openaire.fl_str_mv |
info:eu-repo/semantics/openAccess |
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open access http://purl.org/coar/access_right/c_abf2 Atribución 4.0 Internacional http://creativecommons.org/licenses/by/4.0/ |
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openAccess |
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application/pdf |
| dc.publisher.none.fl_str_mv |
Wiley |
| publisher.none.fl_str_mv |
Wiley |
| dc.source.none.fl_str_mv |
reponame:Repisalud instname:Instituto de Salud Carlos III (ISCIII) |
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Instituto de Salud Carlos III (ISCIII) |
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Repisalud |
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Repisalud |
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1869412659134201856 |
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The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseasesLaurie, StevenPiscia, DavideMatalonga, LeslieCorvó, AlbertoFernández-Callejo, MarcosGarcia-Linares, CarlesHernández-Ferrer, CarlesLuengo, CristinaMartínez, InésPapakonstantinou, AnastasiosPicó-Amador, DanielProtasio, JoanThompson, RachelTonda, RaulBayés, MònicaBullich, GemmaCamps-Puchadas, JordiParamonov, IdaTrotta, Jean-RémiAlonso, AngelAttimonelli, MarcellaBéroud, ChristopheBros-Facer, VirginieBuske, Orion JCañada-Pallarés, AndrésFernández, José MHansson, Mats GHorvath, RitaJacobsen, Julius O BKaliyaperumal, RajaramLair-Préterre, SéverineLicata, LuanaLopes, PedroLopez-Martin, EstrellaMascalzoni, DeborahMonaco, LuciaPérez-Jurado, Luis AlbertoPosada De la Paz, ManuelRambla, JordiRath, AnaRiess, OlafRobinson, Peter NSalgado, DavidSmedley, DamianSpalding, Dylan't Hoen, Peter A CTöpf, AnaZaharieva, IrinaGraessner, HolmGut, Ivo GLochmüller, HannsBeltran, SergiGenomicsRare DiseasesExomeGenetic Association StudiesHumansPhenotypeRare 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.WileyUnión Europea. Comisión Europea. H2020Unión Europea. Comisión Europea. 7 Programa MarcoInstituto de Salud Carlos IIIInstituto Nacional de Bioinformatica (España)Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF)Government of Catalonia (España)Gobierno de Navarra (España)NIH - National Institute of Child Health and Human Development (NICHD) (Estados Unidos)Ministerio de Economía, Industria y Competitividad (España)Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España)Canadian Institutes of Health Research20232023-04-2420222022-06-0120222022-06-01research articlehttp://purl.org/coar/resource_type/c_2df8fbb1VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/20.500.12105/15877reponame:Repisaludinstname:Instituto de Salud Carlos III (ISCIII)InglésengEuropean Commission http://dx.doi.org/10.13039/501100000780 Horizon 2020 Framework Programme 779257European Commission http://dx.doi.org/10.13039/501100000780 Seventh Framework Programme 305444European Commission http://dx.doi.org/10.13039/501100000780 Horizon 2020 Framework Programme 825575European Commission http://dx.doi.org/10.13039/501100000780 Horizon 2020 Framework Programme 676559European Commission http://dx.doi.org/10.13039/501100000780 Seventh Framework Programme 313010European Commission http://dx.doi.org/10.13039/501100000780 Seventh Framework Programme 305121EC 739510 Not availableopen accesshttp://purl.org/coar/access_right/c_abf2Atribución 4.0 Internacionalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:repisalud.isciii.es:20.500.12105/158772026-06-12T12:43:37Z |
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15,812429 |