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dc.contributor.authorCole, John W.
dc.contributor.authorAdigun, Taiwo
dc.contributor.authorAkinyemi, Rufus
dc.contributor.authorAkpa, Onoja Matthew
dc.contributor.authorBell, Steven
dc.contributor.authorChen, Bowang
dc.contributor.authorJimenez Conde, Jordi
dc.contributor.authorLazcano Dobao, Uxue
dc.contributor.authorFernandez, Israel
dc.contributor.authorFornage, Myriam
dc.contributor.authorGallego-Fabrega, Cristina
dc.contributor.authorJern, Christina
dc.contributor.authorKrawczak, Michael
dc.contributor.authorLindgren, Arne
dc.contributor.authorMarkus, Hugh S.
dc.contributor.authorMelander, Olle
dc.contributor.authorOwolabi, Mayowa
dc.contributor.authorSchlicht, Kristina
dc.contributor.authorSöderholm, Martin
dc.contributor.authorSrinivasasainagendra, Vinodh
dc.contributor.authorSoriano Tárraga, Carolina
dc.contributor.authorStenman, Martin
dc.contributor.authorTiwari, Hemant
dc.contributor.authorCorasaniti, Margaret
dc.contributor.authorFecteau, Natalie
dc.contributor.authorGuizzardi, Beth
dc.contributor.authorLopez, Haley
dc.contributor.authorNguyen, Kevin
dc.contributor.authorGaynor, Brady
dc.contributor.authorO’Connor, Timothy
dc.contributor.authorStine, O. Colin
dc.contributor.authorKittner, Steven J.
dc.contributor.authorMcArdle, Patrick
dc.contributor.authorMitchell, Braxton D.
dc.contributor.authorXu, Huichun
dc.contributor.authorGrond-Ginsbach, Caspar
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 study addresses 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 presented demonstrating 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.en_US
dc.description.sponsorshipNational Institute of Neurological Disorders and Strokeen_US
dc.publisherPublic Library of Scienceen_US
dc.relation.ispartofPLoS ONEen_US
dc.subjectCopy Number Variation and Stroke (CaNVAS) Risk and Outcome studyen_US
dc.subject.meshDNA Copy Number Variationsen_US
dc.subject.meshIschemic Stroke--geneticsen_US
dc.titleThe copy number variation and stroke (CaNVAS) risk and outcome studyen_US

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