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dc.contributor.authorCole, John Wen
dc.contributor.authorAdigun, Taiwoen
dc.contributor.authorAkinyemi, Rufusen
dc.contributor.authorAkpa, Onoja Matthewen
dc.contributor.authorBell, Stevenen
dc.contributor.authorChen, Bowangen
dc.contributor.authorJimenez Conde, Jordien
dc.contributor.authorLazcano Dobao, Uxueen
dc.contributor.authorFernandez, Israelen
dc.contributor.authorFornage, Myriamen
dc.contributor.authorGallego-Fabrega, Cristinaen
dc.contributor.authorJern, Christinaen
dc.contributor.authorKrawczak, Michaelen
dc.contributor.authorLindgren, Arneen
dc.contributor.authorMarkus, Hughen
dc.contributor.authorMelander, Olleen
dc.contributor.authorOwolabi, Mayowaen
dc.contributor.authorSchlicht, Kristinaen
dc.contributor.authorSöderholm, Martinen
dc.contributor.authorSrinivasasainagendra, Vinodhen
dc.contributor.authorSoriano Tárraga, Carolinaen
dc.contributor.authorStenman, Martinen
dc.contributor.authorTiwari, Hemanten
dc.contributor.authorCorasaniti, Margareten
dc.contributor.authorFecteau, Natalieen
dc.contributor.authorGuizzardi, Bethen
dc.contributor.authorLopez, Haleyen
dc.contributor.authorNguyen, Kevinen
dc.contributor.authorGaynor, Bradyen
dc.contributor.authorO'Connor, Timothyen
dc.contributor.authorStine, O Colinen
dc.contributor.authorKittner, Steven Jen
dc.contributor.authorMcArdle, Patricken
dc.contributor.authorMitchell, Braxton Den
dc.contributor.authorXu, Huichunen
dc.contributor.authorGrond-Ginsbach, Casparen
dc.date.accessioned2021-04-14T08:41:17Z
dc.date.available2021-04-14T08:41:17Z
dc.date.issued2021-01en
dc.identifier.issn1932-6203
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/319849
dc.description.abstractBackground and purpose. The role of copy number variation (CNV) variation in stroke susceptibility and outcome has yet to be explored. The Copy Number Variation and Stroke (CaNVAS) Risk and Outcome studyaddresses this knowledge gap. Methods. Over 24,500 well-phenotyped IS cases, including IS subtypes, and over 43,500 controls have been identified, all with readily available genotyping on GWAS and exome arrays, with case measures of stroke outcome. To evaluate CNV-associated stroke risk and stroke outcome it is planned to: 1) perform Risk Discovery using several analytic approaches to identify CNVs that are associated with the risk of IS and its subtypes, across the age-, sex- and ethnicity-spectrums; 2) perform Risk Replication and Extension to determine whether the identified stroke-associated CNVs replicate in other ethnically diverse datasets and use biomarker data (e.g. methylation, proteomic, RNA, miRNA, etc.) to evaluate how the identified CNVs exert their effects on stroke risk, and lastly; 3) perform outcome-based Replication and Extension analyses of recent findings demonstrating an inverse relationship between CNV burden and stroke outcome at 3 months (mRS), and then determine the key CNV drivers responsible for these associations using existing biomarker data.Results. The results of an initial CNV evaluation of 50 samples from each participating dataset are presenteddemonstrating that the existing GWAS and exome chip data are excellent for the planned CNV analyses. Further, some samples will require additional considerations for analysis, however such samples can readily be identified, as demonstrated by a sample demonstrating clonal mosaicism. Conclusion. The CaNVAS study will cost-effectively leverage the numerous advantages of using existing case-control data sets, exploring the relationships between CNV and IS and its subtypes, and outcome at 3 months, in both men and women, in those of African and European-Caucasian descent, this, across the entire adult-age spectrum.
dc.description.sponsorshipNIH
dc.format.mediumElectronic-eCollectionen
dc.languageengen
dc.publisherPublic Library of Science (PLoS)
dc.rightsAll rights reserved
dc.rights.uri
dc.titleThe copy number variation and stroke (CaNVAS) risk and outcome study.en
dc.typeArticle
prism.issueIdentifier4en
prism.publicationDate2021en
prism.publicationNamePloS oneen
prism.startingPagee0248791
prism.volume16en
dc.identifier.doi10.17863/CAM.66973
dcterms.dateAccepted2021-03-04en
rioxxterms.versionofrecord10.1371/journal.pone.0248791en
rioxxterms.versionAM
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2021-01en
dc.contributor.orcidCole, John W [0000-0001-9263-8930]
dc.contributor.orcidBell, Steven [0000-0001-6774-3149]
dc.contributor.orcidLazcano Dobao, Uxue [0000-0003-3948-3372]
dc.contributor.orcidMarkus, Hugh [0000-0002-9794-5996]
dc.contributor.orcidGaynor, Brady [0000-0002-4142-0613]
dc.contributor.orcidXu, Huichun [0000-0001-8118-9607]
dc.identifier.eissn1932-6203
rioxxterms.typeJournal Article/Reviewen
cam.orpheus.counter1*
rioxxterms.freetoread.startdate2024-04-14


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