Laboratory for Medical Informatics, Center for Genomic Medicine, RIKEN Yokohama Institute, Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa-ken, 230-0045, Japan.
Genome Biol. 2011;12(3):R21. doi: 10.1186/gb-2011-12-3-r21. Epub 2011 Mar 11.
The analysis of contiguous homozygosity (runs of homozygous loci) in human genotyping datasets is critical in the search for causal disease variants in monogenic disorders, studies of population history and the identification of targets of natural selection. Here, we report methods for extracting homozygous segments from high-density genotyping datasets, quantifying their local genomic structure, identifying outstanding regions within the genome and visualizing results for comparative analysis between population samples.
分析人类基因分型数据集的连续纯合子(纯合子区域的连续)对于寻找单基因疾病中的因果变异、研究种群历史以及鉴定自然选择的目标至关重要。在这里,我们报告了从高密度基因分型数据集提取纯合子片段的方法,量化它们的局部基因组结构,识别基因组内的突出区域,并可视化结果以进行种群样本之间的比较分析。