Please use this identifier to cite or link to this item: https://doi.org/10.1038/jhg.2011.52
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dc.titleA population-based study of copy number variants and regions of homozygosity in healthy Swedish individuals
dc.contributor.authorTeo, S.-M.
dc.contributor.authorKu, C.-S.
dc.contributor.authorNaidoo, N.
dc.contributor.authorHall, P.
dc.contributor.authorChia, K.-S.
dc.contributor.authorSalim, A.
dc.contributor.authorPawitan, Y.
dc.date.accessioned2014-11-26T07:42:26Z
dc.date.available2014-11-26T07:42:26Z
dc.date.issued2011-07
dc.identifier.citationTeo, S.-M., Ku, C.-S., Naidoo, N., Hall, P., Chia, K.-S., Salim, A., Pawitan, Y. (2011-07). A population-based study of copy number variants and regions of homozygosity in healthy Swedish individuals. Journal of Human Genetics 56 (7) : 524-533. ScholarBank@NUS Repository. https://doi.org/10.1038/jhg.2011.52
dc.identifier.issn14345161
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/109148
dc.description.abstractThe abundance of copy number variants (CNVs) and regions of homozygosity (ROHs) have been well documented in previous studies. In addition, their roles in complex diseases and traits have since been increasingly appreciated. However, only a limited amount of CNV and ROH data is currently available for the Swedish population. We conducted a population-based study to detect and characterize CNVs and ROHs in 87 randomly selected healthy Swedish individuals using the Affymetrix SNP Array 6.0. More than 600 CNV loci were detected in the population using two different CNV-detection algorithms (PennCNV and Birdsuite). A total of 196 loci were consistently identified by both algorithms, suggesting their reliability. Numerous disease-associated and pharmacogenetics-related genes were found to be overlapping with common CNV loci such as CFHR1/R3, LCE3B/3C, UGT2B17 and GSTT1. Correlation analysis between copy number polymorphisms (CNPs) and genome-wide association studies-identified single-nucleotide polymorphisms also indicates the potential roles of several CNPs as causal variants for diseases and traits such as body mass index, Crohn's disease and multiple sclerosis. In addition, we also identified a total of 14 815 ROHs ≥500 kb or ≥2814 ROHs 1M in the Swedish individuals with an average of 170 and 32 regions detected per individual respectively. Approximately 141 Mb or 4.92% of the genome is homozygous in each individual of the Swedish population. This is the first population-based study to investigate the population characteristics of CNVs and ROHs in the Swedish population. This study found many CNV loci that warrant further investigation, and also highlighted the abundance and importance of investigating ROHs for their associations with complex diseases and traits. © 2011 The Japan Society of Human Genetics All rights reserved.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1038/jhg.2011.52
dc.sourceScopus
dc.subjectAffymetrix SNP Array 6.0
dc.subjectBirdsuite
dc.subjectcopy number variants
dc.subjectPennCNV
dc.subjectregions of homozygosity
dc.subjectSwedish population
dc.typeArticle
dc.contributor.departmentCENTRE FOR MOLECULAR EPIDEMIOLOGY
dc.contributor.departmentEPIDEMIOLOGY & PUBLIC HEALTH
dc.contributor.departmentSTATISTICS & APPLIED PROBABILITY
dc.description.doi10.1038/jhg.2011.52
dc.description.sourcetitleJournal of Human Genetics
dc.description.volume56
dc.description.issue7
dc.description.page524-533
dc.description.codenJHGEF
dc.identifier.isiut000293063200010
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