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The copy number var...
The copy number variation and stroke (CaNVAS) risk and outcome study
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- Cole, J. W. (författare)
- University of Maryland School of Medicine
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- Adigun, T. (författare)
- University of Ibadan
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- Akinyemi, R. (författare)
- University of Ibadan
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- Melander, Olle (författare)
- Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Bell, S. (författare)
- University of Cambridge
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Chen, B. (författare)
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- Conde, J. J. (författare)
- Autonomous University of Barcelona
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- Dobao, U. L. (författare)
- Autonomous University of Barcelona
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- Fernandez, I. (författare)
- Hospital de Sant Pau
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- Fornage, M. (författare)
- University of Texas
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- Gallego-Fabrega, C. (författare)
- Hospital de Sant Pau
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- Jern, Christina, 1962 (författare)
- University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine
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- Krawczak, M. (författare)
- University of Kiel
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- Lindgren, Arne (författare)
- Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Klinisk strokeforskning,Forskargrupper vid Lunds universitet,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Clinical Stroke Research Group,Lund University Research Groups
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- Markus, H. S. (författare)
- University of Cambridge
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Melander, O. (författare)
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- Owolabi, M. (författare)
- University of Ibadan
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- Schlicht, K. (författare)
- University of Kiel
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- Söderholm, Martin (författare)
- Lund University,Lunds universitet,Kardiovaskulär forskning - epidemiologi,Forskargrupper vid Lunds universitet,Cardiovascular Research - Epidemiology,Lund University Research Groups,Skåne University Hospital
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- Srinivasasainagendra, V. (författare)
- University of Alabama
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- Tárraga, C. S. (författare)
- Autonomous University of Barcelona
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- Stenman, Martin (författare)
- Lund University,Lunds universitet,Klinisk strokeforskning,Forskargrupper vid Lunds universitet,Clinical Stroke Research Group,Lund University Research Groups
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- Tiwari, H. (författare)
- University of Alabama
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- Corasaniti, M. (författare)
- University of Maryland School of Medicine
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- Fecteau, N. (författare)
- University of Maryland School of Medicine
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- Guizzardi, B. (författare)
- University of Maryland School of Medicine
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- Lopez, H. (författare)
- University of Maryland School of Medicine
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- Nguyen, K. (författare)
- University of Maryland School of Medicine
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- Gaynor, B. (författare)
- University of Maryland School of Medicine
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- O’Connor, T. (författare)
- University of Maryland School of Medicine
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- Colin Stine, O. (författare)
- University of Maryland School of Medicine
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- Kittner, S. J. (författare)
- University of Maryland School of Medicine
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- McArdle, P. (författare)
- University of Maryland School of Medicine
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- Mitchell, B. D. (författare)
- University of Maryland School of Medicine
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- Xu, H. (författare)
- University of Maryland School of Medicine
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- Grond-Ginsbach, C. (författare)
- Heidelberg University
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(creator_code:org_t)
- 2021-04-19
- 2021
- Engelska.
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Ingår i: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 16:4 April
- Relaterad länk:
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https://journals.plo...
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http://dx.doi.org/10... (free)
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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Abstract
Ämnesord
Stäng
- Background 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. Copyright: This is an open access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
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Cole, J. W.
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Adigun, T.
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Akinyemi, R.
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Melander, Olle
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Bell, S.
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Chen, B.
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visa fler...
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Conde, J. J.
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Dobao, U. L.
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Fernandez, I.
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Fornage, M.
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Gallego-Fabrega, ...
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Jern, Christina, ...
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Krawczak, M.
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Lindgren, Arne
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Markus, H. S.
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Melander, O.
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Owolabi, M.
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Schlicht, K.
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Söderholm, Marti ...
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Srinivasasainage ...
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Tárraga, C. S.
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Stenman, Martin
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Tiwari, H.
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Corasaniti, M.
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Fecteau, N.
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Guizzardi, B.
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Lopez, H.
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Nguyen, K.
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Gaynor, B.
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O’Connor, T.
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Colin Stine, O.
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Kittner, S. J.
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McArdle, P.
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Mitchell, B. D.
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Xu, H.
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Grond-Ginsbach, ...
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