Tag SNP selection using similarity associations between SNPs

Uhan Ilhan, G. Tezel, Cengiz Özcan
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引用次数: 4

Abstract

Genetic changes that may be associated with complex diseases are tried to be determined by means of many genome-wide association studies. Single Nucleotide Polymorphisms (SNPs) are used primarily in these studies since they comprise a large part of these genetic changes. Statistical importance of the genome-wide association study is directly related to the number of individuals and SNPs. However, it is still very costly and time-consuming to genotype all SNPs inside the candidate area for many individuals in very large-scale association studies. For this reason, with a small error, it is necessary to select an appropriate subset of all SNPs that will represent the rest of SNPs. These selected SNPs are called tag SNPs or haplotype tag SNPs (tag SNPs or htSNPs). It is essential in tag SNP selection to determine minimum tag SNP set with very good prediction accuracy. In this study, while Clonal Selection Algorithm (CLONALG) was used as tag SNP selection method, a new method named CLONSim, in which similarity association between SNPs was used as the prediction method for the rest of SNPs was proposed. The proposed method was compared with BPSO (Binary Particle Swarm Optimization) and CLONTagger methods with parameter optimization using datasets of different sizes. Experiment results showed that the proposed method could identify tag SNPs significantly faster.
使用SNP之间的相似性关联进行标签SNP选择
可能与复杂疾病相关的遗传变化试图通过许多全基因组关联研究来确定。单核苷酸多态性(SNPs)主要用于这些研究,因为它们构成了这些遗传变化的很大一部分。全基因组关联研究的统计重要性与个体数量和snp直接相关。然而,在非常大规模的关联研究中,对许多个体在候选区域内的所有snp进行基因分型仍然是非常昂贵和耗时的。因此,在误差很小的情况下,有必要从所有snp中选择一个适当的子集来代表其余的snp。这些选择的snp被称为标签snp或单倍型标签snp(标签snp或htsnp)。在标签SNP选择中,确定具有良好预测精度的最小标签SNP集是至关重要的。本研究在克隆选择算法(clone Selection Algorithm, CLONALG)作为标签SNP选择方法的基础上,提出了一种新的方法CLONSim,利用SNP之间的相似性关联作为剩余SNP的预测方法。利用不同规模的数据集,将该方法与BPSO (Binary Particle Swarm Optimization)和CLONTagger方法进行参数优化比较。实验结果表明,该方法可以显著加快标签snp的识别速度。
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