Definition and clinical importance of haplotypes

被引：243

作者：

Crawford, DC ^{[1
]}

Nickerson, DA ^{[1
]}

机构：

[1] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

来源：

ANNUAL REVIEW OF MEDICINE | 2005年 / 56卷

关键词：

SNPs; genetics; association; haplotype tagging; linkage disequilibrium;

D O I：

10.1146/annurev.med.56.082103.104540

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Advances in genotyping and sequencing technologies, coupled with the development of sophisticated statistical methods, have afforded investigators novel opportunities to define the role of sequence variation in the development of common human diseases. At the forefront of these investigations is the use of dense maps of single-nucleotide polymorphisms (SNPs) and the haplotypes derived from these polymorphisms. Here we review basic concepts of high-density genetic maps of SNPs and haplotypes and how they are typically generated and used in human genetic research. We also provide useful examples and tools available for researchers interested in incorporating haplotypes into their studies. Finally, we discuss the latest concepts for the analysis of haplotypes related to human disease, including haplotype blocks, the International HapMap Project, and the future directions of these resources.

引用

页码：303 / +

页数：23

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