Fine-scale structure of the genome and markers used in association mapping.
Fine-scale structure of the genome and markers used in association mapping.
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基因组的精细结构和关联作图中使用的标记。
DOI：
10.1007/978-1-60327-416-6_6
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发表时间：
2011
期刊：
影响因子：
--
通讯作者：
Camp,NicolaJ
中科院分区：
文献类型：
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作者：
Curtin,Karen;Camp,NicolaJ
在本章中，突变（特别是单核苷酸多态性，SNPs）和重组将被更详细地介绍，并将回顾基因型和单体型的概念。连锁不平衡（LD）描述了不同基因座上等位基因之间关系的强度。LD的定义，它的视觉表示，以及测量LD的统计数据的计算将被呈现。遗传关联研究确定疾病易感性等位基因的能力从根本上依赖于所研究的遗传变异。标准方法是通过利用局部相关结构来确定捕获感兴趣区域中的大部分基因组变异的一组标记SNP（tSNP）。LD的概念和它是如何用于选择tSNPs将得到解决，以及具体的程序和算法，由研究人员实践，以确定这些变异。
In this chapter, mutation (specifically single-nucleotide polymorphisms, SNPs) and recombination will be covered in more detail, and the concepts of genotype and haplotype will be reviewed. Linkage disequilibrium (LD) describes the strength of a relationship between alleles at different loci. The definition for LD, its visual representation, and the calculation of statistics that measure LD will be presented. The power of genetic association studies to identify disease susceptibility alleles fundamentally relies on the genetic variants studied. A standard approach is to determine a set of tagging-SNPs (tSNPs) that capture the majority of genomic variation in regions of interest by exploiting local correlation structures. The concept of LD and how it is used to select tSNPs will be addressed, as well as specific procedures and algorithms that are practiced by researchers to determine these variants.