Center for Human Genetics, Duke University, Durham, North Carolina 27710, USA.
Genet Epidemiol. 2009;33 Suppl 1(Suppl 1):S24-8. doi: 10.1002/gepi.20468.
In this summary article, we describe the contributions included in the haplotype-based analysis group (Group 4) at the Genetic Analysis Workshop 16, which was held in September 17-20, 2008. Our group applied a large number of haplotype-based methods in the context of genome-wide association studies. Two general approaches were applied: a two-stage approach that selected significant single-nucleotide polymorphisms (SNPs) in the first stage and then created haplotypes in the second stage and genome-wide analysis of smaller sets of SNPs selected by sliding windows or estimating haplotype blocks. Genome-wide haplotype analyses performed in these ways were feasible. The presence of the very strong chromosome 6 association in the North American Rheumatoid Arthritis Consortium data was detected by every method, and additional analyses attempted to control for this strong result to allow detection of additional haplotype associations.
在这篇总结文章中,我们描述了 2008 年 9 月 17 日至 20 日举办的第 16 届遗传分析工作坊中基于单倍型分析组(第 4 组)的研究成果。我们的研究小组在全基因组关联研究的背景下应用了大量基于单倍型的方法。采用了两种通用方法:两阶段方法,在第一阶段选择显著的单核苷酸多态性(SNP),然后在第二阶段构建单倍型;通过滑动窗口选择或估计单倍型块的较小 SNP 集进行全基因组分析。这些方法都可以进行全基因组单倍型分析。每种方法都检测到北美类风湿关节炎联盟数据中非常强烈的染色体 6 关联,并且还进行了额外的分析来控制这种强烈的结果,以检测其他单倍型关联。