2026-06-14T05:05:43Zhttps://repisalud.isciii.es/rest/oai/request
oai:repisalud.isciii.es:20.500.12105/158772025-05-05T11:08:52Zcom_20.500.12105_15322com_20.500.12105_2051com_20.500.12105_2052col_20.500.12105_16968col_20.500.12105_16983col_20.500.12105_19616
Repisalud author Laurie, Steven author Piscia, Davide author Matalonga, Leslie author Corvó, Alberto author Fernández-Callejo, Marcos author Garcia-Linares, Carles author Hernández-Ferrer, Carles author Luengo, Cristina author Martínez, Inés author Papakonstantinou, Anastasios author Picó-Amador, Daniel author Protasio, Joan author Thompson, Rachel author Tonda, Raul author Bayés, Mònica author Bullich, Gemma author Camps-Puchadas, Jordi author Paramonov, Ida author Trotta, Jean-Rémi author Alonso, Angel author Attimonelli, Marcella author Béroud, Christophe author Bros-Facer, Virginie author Buske, Orion J author Cañada-Pallarés, Andrés author Fernández, José M author Hansson, Mats G author Horvath, Rita author Jacobsen, Julius O B author Kaliyaperumal, Rajaram author Lair-Préterre, Séverine author Licata, Luana author Lopes, Pedro author Lopez-Martin, Estrella author Mascalzoni, Deborah author Monaco, Lucia author Pérez-Jurado, Luis Alberto author Posada De la Paz, Manuel author Rambla, Jordi author Rath, Ana author Riess, Olaf author Robinson, Peter N author Salgado, David author Smedley, Damian author Spalding, Dylan author 't Hoen, Peter A C author Töpf, Ana author Zaharieva, Irina author Graessner, Holm author Gut, Ivo G author Lochmüller, Hanns author Beltran, Sergi funder Unión Europea. Comisión Europea. H2020 funder Unión Europea. Comisión Europea. 7 Programa Marco funder Instituto de Salud Carlos III funder Instituto Nacional de Bioinformatica (España) funder Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF) funder Government of Catalonia (España) funder Gobierno de Navarra (España) funder NIH - National Institute of Child Health and Human Development (NICHD) (Estados Unidos) funder Ministerio de Economía, Industria y Competitividad (España) funder Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España) funder Canadian Institutes of Health Research 2023-04-24T12:16:45Z 2023-04-24T12:16:45Z 2022-06 Hum Mutat. 2022 Jun;43(6):717-733. 10.1002/humu.24353 1098-1004 Human mutation 35178824 http://hdl.handle.net/20.500.12105/15877 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. eng Data sharing Data standardization Diagnostics Genome analysis NGS Patient matchmaking Rare diseases The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases research article 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 URL https://repisalud.isciii.es/bitstreams/ac0fb174-74ea-4aa5-aabf-9442482abf30/download File MD5 8973a14ee04e3d373cb086d20f5dcd91 3119850 application/pdf RD‐ConnectGenome‐PhenomeAnalysis_2022.pdf URL https://repisalud.isciii.es/bitstreams/9f3a263c-cbdc-4114-941b-36ee5f7c4c46/download File MD5 07f30b4060b3b62b835559f71a953002 101582 text/plain RD‐ConnectGenome‐PhenomeAnalysis_2022.pdf.txt