Sjölander Arvid, Hössjer Ola, Hartman Linda Werner, Humphreys Keith
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Ann Hum Genet. 2007 Nov;71(Pt 6):815-27. doi: 10.1111/j.1469-1809.2007.00379.x. Epub 2007 Jun 22.
We describe a haplotype clustering approach for localising a disease mutation within a fixed genomic region, which supplements tagging SNP (tSNP) information with (external) information on linkage disequilibrium. By applying our method to simulated data based on the coalescent, and on real haplotype data, we demonstrate that there are situations where significant gains can be made by incorporating tagged SNPs into the analysis. The issues we explore are important not only to these types of studies, but also to studies that select tSNPs based on (external) HapMap phase II data, and those that use genome-wide markers.
我们描述了一种用于在固定基因组区域内定位疾病突变的单倍型聚类方法，该方法用（外部）连锁不平衡信息补充标签单核苷酸多态性（tSNP）信息。通过将我们的方法应用于基于合并理论的模拟数据以及真实单倍型数据，我们证明在某些情况下，将标记的单核苷酸多态性纳入分析可显著获益。我们探讨的问题不仅对这类研究很重要，对基于（外部）HapMap二期数据选择tSNP的研究以及使用全基因组标记的研究也很重要。
