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The lupus family registry and repository

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dc.creatorRasmussen A.spa
dc.creatorSevier S.spa
dc.creatorKelly J.A.spa
dc.creatorGlenn S.B.spa
dc.creatorAberle T.spa
dc.creatorCooney C.M.spa
dc.creatorGrether A.spa
dc.creatorJames E.spa
dc.creatorNing J.spa
dc.creatorTesiram J.spa
dc.creatorMorrisey J.spa
dc.creatorPowe T.spa
dc.creatorDrexel M.spa
dc.creatorDaniel W.spa
dc.creatorNamjou B.spa
dc.creatorOjwang J.O.spa
dc.creatorNguyen K.L.spa
dc.creatorCavett J.W.spa
dc.creatorTe J.L.spa
dc.creatorJames J.A.spa
dc.creatorHal Scofield R.spa
dc.creatorMoser K.spa
dc.creatorGilkeson G.S.spa
dc.creatorKamen D.L.spa
dc.creatorCarson C.W.spa
dc.creatorQuintero-del-Rio A.I.spa
dc.creatordel Carmen Ballesteros M.spa
dc.creatorPunaro M.G.spa
dc.creatorKarp D.R.spa
dc.creatorWallace D.J.spa
dc.creatorWeisman M.spa
dc.creatorMerrill J.T.spa
dc.creatorRivera R.spa
dc.creatorPetri M.A.spa
dc.creatorAlbert D.A.spa
dc.creatorEspinoza L.R.spa
dc.creatorUtset T.O.spa
dc.creatorShaver T.S.spa
dc.creatorArthur E.spa
dc.creatorAnaya, Juan-Manuelspa
dc.creatorBruner G.R.spa
dc.creatorHarley J.B.spa
dc.date.accessioned2020-05-26T00:00:38Z
dc.date.available2020-05-26T00:00:38Z
dc.date.created2011spa
dc.description.abstractThe Lupus Family Registry and Repository (LFRR) was established with the goal of assembling and distributing materials and data from families with one or more living members diagnosed with SLE, in order to address SLE genetics. In the present article, we describe the problems and solutions of the registry design and biometric data gathering; the protocols implemented to guarantee data quality and protection of participant privacy and consent; and the establishment of a local and international network of collaborators. At the same time, we illustrate how the LFRR has enabled progress in lupus genetics research, answering old scientific questions while laying out new challenges in the elucidation of the biologic mechanisms that underlie disease pathogenesis. Trained staff ascertain SLE cases, unaffected family members and population-based controls, proceeding in compliance with the relevant laws and standards; participant consent and privacy are central to the LFRR's effort. Data, DNA, serum, plasma, peripheral blood and transformed B-cell lines are collected and stored, and subject to strict quality control and safety measures. Coded data and materials derived from the registry are available for approved scientific users. The LFRR has contributed to the discovery of most of the 37 genetic associations now known to contribute to lupus through 104 publications. The LFRR contains 2618 lupus cases from 1954 pedigrees that are being studied by 76 approved users and their collaborators. The registry includes difficult to obtain populations, such as multiplex pedigrees, minority patients and affected males, and constitutes the largest collection of lupus pedigrees in the world. The LFRR is a useful resource for the discovery and characterization of genetic associations in SLE. © The Author 2010. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1093/rheumatology/keq302
dc.identifier.issn14620324
dc.identifier.issn14620332
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23250
dc.language.isoengspa
dc.relation.citationEndPage59
dc.relation.citationIssueNo. 1
dc.relation.citationStartPage47
dc.relation.citationTitleRheumatology
dc.relation.citationVolumeVol. 50
dc.relation.ispartofRheumatology, ISSN:14620324, 14620332, Vol.50, No.1 (2011); pp. 47-59spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-79951706007&doi=10.1093%2frheumatology%2fkeq302&partnerID=40&md5=ce09c053773182cce82fc9db295fa68aspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordDnaspa
dc.subject.keywordsystemiceng
dc.subject.keywordB lymphocytespa
dc.subject.keywordBloodspa
dc.subject.keywordClinical data repositoryspa
dc.subject.keywordDisease registryspa
dc.subject.keywordGenetic analysisspa
dc.subject.keywordGenetic associationspa
dc.subject.keywordHumanspa
dc.subject.keywordInformation processingspa
dc.subject.keywordInformation technologyspa
dc.subject.keywordLupus family registry and repositoryspa
dc.subject.keywordMedical recordspa
dc.subject.keywordPriority journalspa
dc.subject.keywordQuality controlspa
dc.subject.keywordReviewspa
dc.subject.keywordSystemic lupus erythematosusspa
dc.subject.keywordAlgorithmsspa
dc.subject.keywordFemalespa
dc.subject.keywordGenetic linkagespa
dc.subject.keywordGenetic predisposition to diseasespa
dc.subject.keywordGenome-wide association studyspa
dc.subject.keywordHumansspa
dc.subject.keywordLupus erythematosuseng
dc.subject.keywordMalespa
dc.subject.keywordPedigreespa
dc.subject.keywordRegistriesspa
dc.subject.keywordSex factorsspa
dc.subject.keywordAutoimmune diseasesspa
dc.subject.keywordGeneticsspa
dc.subject.keywordGenome-wide association studiesspa
dc.subject.keywordHeritabilityspa
dc.subject.keywordLinkage analysisspa
dc.subject.keywordMinoritiesspa
dc.subject.keywordRegistryspa
dc.subject.keywordRepositoryspa
dc.subject.keywordSystemic lupus erythematosusspa
dc.subject.keywordWomenspa
dc.titleThe lupus family registry and repositoryspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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