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Candidate gene discovery in autoimmunity by using extreme phenotypes, next generation sequencing and whole exome capture

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dc.creatorJohar, Angad S.spa
dc.creatorAnaya, Juan-Manuelspa
dc.creatorAndrews, Danspa
dc.creatorPatel, Hardip R.spa
dc.creatorField, Matthewspa
dc.creatorGoodnow, Chrisspa
dc.creatorArcos-Burgos, Mauricio
dc.date.accessioned2020-05-26T00:00:31Z
dc.date.available2020-05-26T00:00:31Z
dc.date.created2015spa
dc.description.abstractWhole exome sequencing (WES) is a widely used strategy for detection of protein coding and splicing variants associated with inherited diseases. Many studies have shown that the strategy has been broad and proficient due to its ability in detecting a high proportion of disease causing variants, using only a small portion of the genome. In this review we outline the main steps involved in WES, the comprehensive analysis of the massive data obtained including the genomic capture, amplification, sequencing, alignment, curating, filtering and genetic analysis to determine the presence of candidate variants with potential pathogenic/functional effect. Further, we propose that the multiple autoimmune syndrome, an extreme phenotype of autoimmune disorders, is a very well suited trait to tackle genomic variants of major effect underpinning the lost of self-tolerance. © 2014 Elsevier B.V.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.autrev.2014.10.021
dc.identifier.issn15689972
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23234
dc.language.isoengspa
dc.publisherElsevierspa
dc.relation.citationEndPage209
dc.relation.citationIssueNo. 3
dc.relation.citationStartPage204
dc.relation.citationTitleAutoimmunity Reviews
dc.relation.citationVolumeVol. 14
dc.relation.ispartofAutoimmunity Reviews, ISSN:15689972, Vol.14, No.3 (2015); pp. 204-209spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84921028038&doi=10.1016%2fj.autrev.2014.10.021&partnerID=40&md5=51c782c057f04d7c0690084ca69a3a2cspa
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.keywordAutoimmune diseasespa
dc.subject.keywordAutoimmunityspa
dc.subject.keyworddnaeng
dc.subject.keywordBioinformaticsspa
dc.subject.keywordExomespa
dc.subject.keywordGene mappingspa
dc.subject.keywordGenetic variabilityspa
dc.subject.keywordHumanspa
dc.subject.keywordNext generation sequencingspa
dc.subject.keywordNonhumanspa
dc.subject.keywordPhenotypespa
dc.subject.keywordReviewspa
dc.subject.keywordSequence analysisspa
dc.subject.keywordWhole exome sequencingspa
dc.subject.keywordDna sequencespa
dc.subject.keywordGenomicsspa
dc.subject.keywordHigh throughput sequencingspa
dc.subject.keywordPhenotypespa
dc.subject.keywordAutoimmunityspa
dc.subject.keywordExomespa
dc.subject.keywordGenomicsspa
dc.subject.keywordHigh-throughput nucleotide sequencingspa
dc.subject.keywordHumansspa
dc.subject.keywordPhenotypespa
dc.subject.keywordSequence analysiseng
dc.subject.keywordMultiple autoimmune syndromespa
dc.subject.keywordNext generation sequencingspa
dc.subject.keywordPolyautoimmunityspa
dc.subject.keywordWhole exome sequencingspa
dc.subject.keywordWhole genome sequencingspa
dc.titleCandidate gene discovery in autoimmunity by using extreme phenotypes, next generation sequencing and whole exome capturespa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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