全基因组关联研究中标签SNP集的选择方法  

TagSNP-set Selection Method in Genome Wide Association Study

作　　者：万强 张玉林 王淑栋[2] 贺思程 温兆琦 WAN Qiang;ZHANG Yulin;WANG Shudong;HE Sicheng;WEN Zhaoqi(College of Mathematics and Systems Science,Shandong University of Science and Technology,Qingdao,Shandong 266590,China;College of Computer Science and Technology,China University of Petroleum,Qingdao,Shandong 266580,China)

机构地区：[1]山东科技大学数学与系统科学学院,山东青岛266590 [2]中国石油大学(华东)计算机科学与技术学院,山东青岛266580

出　　处：《数学建模及其应用》2021年第3期44-53,69,共11页Mathematical Modeling and Its Applications

基　　金：国家自然科学基金(61572522,61503224,61773245);2019年全国统计科学研究项目(2019LY49)。

摘　　要：单核苷酸多态性引起的DNA序列的改变造成了整个生物界染色体基因组的多样性,对SNP的深入研究对于识别人类基因表型和疾病关联具有重要的意义.标签SNP集的选择是生物信息学中的关键问题,少量的标签SNP所代表基因的遗传信息可以大大降低基因分型和全基因组关联研究的成本.本文详细介绍了SNP相关理论以及标签SNP集的选择方法,并针对标签SNP的应用以及未来的研究方向进行了简要分析.Changes in DNA sequence caused by common single nucleotide polymorphisms(SNP)have caused the diversity of chromosomal genomes among species,including humans.In-depth research on SNP is of great significance for identifying human genotypes and the association between diseases and diseases.The selection of tag SNP sets is a key issue in bioinformatics.Using a small number of tag SNP sets to represent most of the genetic information can greatly reduce the cost of genotyping and genome-wide association studies.This article introduces SNP-related theories and the selection method of tag SNP set in detail,and briefly analyzes the application of tag SNP and future research directions.

关 键 词：单核苷酸多态性 全基因组关联 连锁不平衡 单体型 标签SNP 

分 类 号：O29[理学—应用数学]