Repository logo
 

The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.

Simple item page
cam.issuedOnline2022-02-17
dc.contributor.authorLaurie, Steven
dc.contributor.authorPiscia, Davide
dc.contributor.authorMatalonga, Leslie
dc.contributor.authorCorvó, Alberto
dc.contributor.authorFernández-Callejo, Marcos
dc.contributor.authorGarcia-Linares, Carles
dc.contributor.authorHernandez-Ferrer, Carles
dc.contributor.authorLuengo, Cristina
dc.contributor.authorMartínez, Inés
dc.contributor.authorPapakonstantinou, Anastasios
dc.contributor.authorPicó-Amador, Daniel
dc.contributor.authorProtasio, Joan
dc.contributor.authorThompson, Rachel
dc.contributor.authorTonda, Raul
dc.contributor.authorBayés, Mònica
dc.contributor.authorBullich, Gemma
dc.contributor.authorCamps-Puchadas, Jordi
dc.contributor.authorParamonov, Ida
dc.contributor.authorTrotta, Jean-Rémi
dc.contributor.authorAlonso, Angel
dc.contributor.authorAttimonelli, Marcella
dc.contributor.authorBéroud, Christophe
dc.contributor.authorBros-Facer, Virginie
dc.contributor.authorBuske, Orion J
dc.contributor.authorCañada-Pallarés, Andrés
dc.contributor.authorFernández, José M
dc.contributor.authorHansson, Mats G
dc.contributor.authorHorvath, Rita
dc.contributor.authorJacobsen, Julius OB
dc.contributor.authorKaliyaperumal, Rajaram
dc.contributor.authorLair-Préterre, Séverine
dc.contributor.authorLicata, Luana
dc.contributor.authorLopes, Pedro
dc.contributor.authorLópez-Martín, Estrella
dc.contributor.authorMascalzoni, Deborah
dc.contributor.authorMonaco, Lucia
dc.contributor.authorPérez-Jurado, Luis A
dc.contributor.authorPosada de la Paz, Manuel
dc.contributor.authorRambla, Jordi
dc.contributor.authorRath, Ana
dc.contributor.authorRiess, Olaf
dc.contributor.authorRobinson, Peter N
dc.contributor.authorSalgado, David
dc.contributor.authorSmedley, Damian
dc.contributor.authorSpalding, Dylan
dc.contributor.author't Hoen, Peter AC
dc.contributor.authorTöpf, Ana
dc.contributor.authorZaharieva, Irina
dc.contributor.authorGraessner, Holm
dc.contributor.authorGut, Ivo G
dc.contributor.authorLochmüller, Hanns
dc.contributor.authorBeltran, Sergi
dc.contributor.orcidLaurie, Steven [0000-0003-3913-5829]
dc.contributor.orcidPiscia, Davide [0000-0002-0468-0408]
dc.contributor.orcidMatalonga, Leslie [0000-0003-0807-2570]
dc.contributor.orcidCorvó, Alberto [0000-0003-0174-2818]
dc.contributor.orcidFernández-Callejo, Marcos [0000-0002-9968-3766]
dc.contributor.orcidGarcia-Linares, Carles [0000-0002-0558-2498]
dc.contributor.orcidHernandez-Ferrer, Carles [0000-0002-8029-7160]
dc.contributor.orcidLuengo, Cristina [0000-0003-1612-8706]
dc.contributor.orcidMartínez, Inés [0000-0002-2062-3120]
dc.contributor.orcidPapakonstantinou, Anastasios [0000-0003-4301-3859]
dc.contributor.orcidPicó-Amador, Daniel [0000-0001-5254-2184]
dc.contributor.orcidProtasio, Joan [0000-0001-6342-8096]
dc.contributor.orcidThompson, Rachel [0000-0002-6889-0121]
dc.contributor.orcidTonda, Raul [0000-0001-7893-2404]
dc.contributor.orcidBayés, Mònica [0000-0002-8271-3076]
dc.contributor.orcidBullich, Gemma [0000-0002-0737-4422]
dc.contributor.orcidCamps-Puchadas, Jordi [0000-0001-8763-9947]
dc.contributor.orcidParamonov, Ida [0000-0001-8666-6054]
dc.contributor.orcidTrotta, Jean-Rémi [0000-0001-9548-8165]
dc.contributor.orcidAlonso, Angel [0000-0001-5111-310X]
dc.contributor.orcidAttimonelli, Marcella [0000-0003-2091-8364]
dc.contributor.orcidBéroud, Christophe [0000-0003-2986-8738]
dc.contributor.orcidBuske, Orion J [0000-0002-9064-092X]
dc.contributor.orcidCañada-Pallarés, Andrés [0000-0003-1284-3737]
dc.contributor.orcidFernández, José M [0000-0002-4806-5140]
dc.contributor.orcidHansson, Mats G [0000-0002-4053-8468]
dc.contributor.orcidHorvath, Rita [0000-0002-9841-170X]
dc.contributor.orcidJacobsen, Julius OB [0000-0002-3265-1591]
dc.contributor.orcidKaliyaperumal, Rajaram [0000-0002-1215-167X]
dc.contributor.orcidLicata, Luana [0000-0001-5084-9000]
dc.contributor.orcidLopes, Pedro [0000-0001-5330-6562]
dc.contributor.orcidLópez-Martín, Estrella [0000-0003-3212-1424]
dc.contributor.orcidMascalzoni, Deborah [0000-0003-4156-1464]
dc.contributor.orcidMonaco, Lucia [0000-0001-5620-1790]
dc.contributor.orcidPosada de la Paz, Manuel [0000-0002-8372-4180]
dc.contributor.orcidRambla, Jordi [0000-0001-9091-257X]
dc.contributor.orcidRath, Ana [0000-0003-4308-6337]
dc.contributor.orcidRiess, Olaf [0000-0002-7011-1369]
dc.contributor.orcidRobinson, Peter N [0000-0002-0736-9199]
dc.contributor.orcidSmedley, Damian [0000-0002-5836-9850]
dc.contributor.orcidSpalding, Dylan [0000-0002-4285-2493]
dc.contributor.orcid't Hoen, Peter AC [0000-0003-4450-3112]
dc.contributor.orcidTöpf, Ana [0000-0002-9227-2526]
dc.contributor.orcidZaharieva, Irina [0000-0002-7663-6297]
dc.contributor.orcidGraessner, Holm [0000-0001-9803-7183]
dc.contributor.orcidGut, Ivo G [0000-0001-7219-632X]
dc.contributor.orcidLochmüller, Hanns [0000-0003-2324-8001]
dc.contributor.orcidBeltran, Sergi [0000-0002-2810-3445]
dc.date.accessioned2022-05-20T15:05:14Z
dc.date.available2022-05-20T15:05:14Z
dc.date.issued2022-06
dc.date.submitted2021-10-08
dc.date.updated2022-05-20T15:05:13Z
dc.description.abstractRare 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.
dc.identifier.doi10.17863/CAM.84766
dc.identifier.eissn1098-1004
dc.identifier.issn1059-7794
dc.identifier.otherhumu24353
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/337352
dc.languageen
dc.language.isoeng
dc.publisherHindawi Limited
dc.publisher.urlhttp://dx.doi.org/10.1002/humu.24353
dc.subjectNGS
dc.subjectdata sharing
dc.subjectdata standardization
dc.subjectdiagnostics
dc.subjectgenome analysis
dc.subjectpatient matchmaking
dc.subjectrare diseases
dc.subjectExome
dc.subjectGenetic Association Studies
dc.subjectGenomics
dc.subjectHumans
dc.subjectPhenotype
dc.subjectRare Diseases
dc.titleThe RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
dc.typeArticle
dcterms.dateAccepted2022-02-14
prism.endingPage733
prism.issueIdentifier6
prism.publicationNameHum Mutat
prism.startingPage717
prism.volume43
pubs.funder-project-idEuropean Commission (305121)
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by-nc/4.0/
rioxxterms.versionVoR
rioxxterms.versionofrecord10.1002/humu.24353

Files

Original bundle
Now showing 1 - 2 of 2
No Thumbnail Available
Name:
humu.24353.xml
Size:
33.51 KB
Format:
Extensible Markup Language
Description:
Bibliographic metadata
Licence
http://creativecommons.org/licenses/by-nc/4.0/
Download
Thumbnail Image
Name:
humu.24353.pdf
Size:
3.05 MB
Format:
Adobe Portable Document Format
Description:
Published version
Licence
http://creativecommons.org/licenses/by-nc/4.0/
Download

Collections

Jisc Publications Router