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dc.contributor.authorThomas, Laurent
dc.contributor.authorSaito, Takaya
dc.contributor.authorSætrom, Pål
dc.identifier.citationNucleic Acids Research. 2011, 39 (16), .nb_NO
dc.description.abstractMicroRNAs (miRNAs) regulate genes post transcription by pairing with messenger RNA (mRNA). Variants such as single nucleotide polymorphisms (SNPs) in miRNA regulatory regions might result in altered protein levels and disease. Genome-wide association studies (GWAS) aim at identifying genomic regions that contain variants associated with disease, but lack tools for finding causative variants. We present a computational tool that can help identifying SNPs associated with diseases, by focusing on SNPs affecting miRNA-regulation of genes. The tool predicts the effects of SNPs in miRNA target sites and uses linkage disequilibrium to map these miRNA-related variants to SNPs of interest in GWAS. We compared our predicted SNP effects in miRNA target sites with measured SNP effects from allelic imbalance sequencing. Our predictions fit measured effects better than effects based on differences in free energy or differences of TargetScan context scores. We also used our tool to analyse data from published breast cancer and Parkinson's disease GWAS and significant trait-associated SNPs from the NHGRI GWAS Catalog. A database of predicted SNP effects is available at . The database is based on haplotype data from the CEU HapMap population and miRNAs from miRBase 16.0.nb_NO
dc.publisherOxford University Pressnb_NO
dc.rightsNavngivelse-Ikkekommersiell 4.0 Internasjonal*
dc.titleInferring causative variants in microRNA target sitesnb_NO
dc.typeJournal articlenb_NO
dc.typePeer reviewednb_NO
dc.source.journalNucleic Acids Researchnb_NO
dc.description.localcodeThe Author(s) 2011. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( by-nc/3.0), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.nb_NO
cristin.unitnameInstitutt for klinisk og molekylær medisin
cristin.unitnameInstitutt for datateknologi og informatikk

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Navngivelse-Ikkekommersiell 4.0 Internasjonal
Except where otherwise noted, this item's license is described as Navngivelse-Ikkekommersiell 4.0 Internasjonal