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dc.contributor.authorGuo, Yongjianen_US
dc.contributor.authorJamison, D Curtisen_US
dc.identifier.citationBMC Genomics. 2005 Oct 06;6(1):140en_US
dc.description.abstractBackground As a result of high-throughput genotyping methods, millions of human genetic variants have been reported in recent years. To efficiently identify those with significant biological functions, a practical strategy is to concentrate on variants located in important sequence regions such as gene regulatory regions. Results Analysis of the most common type of variant, single nucleotide polymorphisms (SNPs), shows that in gene promoter regions more SNPs occur in close proximity to transcriptional start sites than in regions further upstream, and a disproportionate number of those SNPs represent nucleotide transversions. Additionally, the number of SNPs found in the predicted transcription factor binding sites is higher than in non-binding site sequences. Conclusion Current information about transcription factor binding site sequence patterns may not be exhaustive, and SNPs may be actively involved in influencing gene expression by affecting the transcription factor binding sites.en_US
dc.rightsCreative Commons Attribution 4.0 International*
dc.titleThe distribution of SNPs in human gene regulatory regionsen_US
dc.typeArticle - Refereed
dc.description.versionPeer Reviewed
dc.rights.holderYongjian Guo et al.; licensee BioMed Central Ltd.en_US
dc.title.serialBMC Genomics

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Creative Commons Attribution 4.0 International
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