Whole-genome genotyping of haplotype tag single nucleotide polymorphisms
Whole-genome genotyping of haplotype tag single nucleotide polymorphisms
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DOI：
10.2217/14622416.7.4.641
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发表时间：
2006-06-01
期刊：
影响因子：
2.1
通讯作者：
Shen, R
中科院分区：
文献类型：
--
作者：
Gunderson, KL;Kuhn, KM;Shen, R
国际HapMap联合会最近在三个主要群体中完成了超过380万个单核苷酸多态(SNPs)的基因分型，研究连锁不平衡模式的结果表明，30万-50万个标签SNPs的特征足以为许多群体中基于连锁不平衡的关联研究提供良好的基因组覆盖率。这些全基因组关联研究将用于剖析复杂疾病的遗传学和药物基因组药物反应。因此，开发一种经济高效的基因分型平台，能够对数千个样本中的数十万个SNP进行分析是至关重要的。在这篇综述中，我们描述了一种全基因组基因分型(WGG)分析的发展，该方法能够从单个样本制备中进行无限制的SNP选择和有效的无限制多重。WGG结合高密度BeadChipS(TM)的开发已经创造了三种不同的高密度SNP基因分型BeadChip：包含超过109,000个外显子中心SNP的Sentrix(TM)Human-1基因分型珠芯片；包含超过317,000个标签SNP的HumanHap300珠芯片；以及包含超过550,000个标签SNP的HumanHap550珠芯片。
The International HapMap Consortium recently completed gencityping over 3.8 million single nuclecitide polymorphisms (SNPs) in three major populations, and the results of studying patterns of linkage disequilibrium indicate that characterization of 300,000-500,000 tag SNPs is sufficient to provide good genomic coverage for linkage-disequilibrium-based association studies in many populations. These whole-genome association studies will be used to dissect the genetics of complex diseases and pharmacogenomic drug responses. As such, the development of a cost-effective gencityping platform that can assay hundred of thousands of SNPs across thousands of samples is essential. In this review, we describe the development of a whole-genome gencityping (WGG) assay that enables unconstrained SNP selection and effectively unlimited multiplexing from a single sample preparation. The development of WGG in concert with high-density BeadChipS (TM) has enabled the creation of three different high-density SNP gencityping BeadChips: the Sentrix (TM) Human-1 Genotyping BeadChip containing over 109,000 exon-centric SNPs; the HumanHap300 BeadChip containing over 317,000 tag SNPs, and the HumanHap550 Beadchip containing over 550,000 tag SNPs.