Simulating haplotype blocks in the human genome
Simulating haplotype blocks in the human genome
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DOI：
10.1093/bioinformatics/19.2.289
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发表时间：
2003-01-22
期刊：
影响因子：
5.8
通讯作者：
Wiuf, C
中科院分区：
文献类型：
--
作者：
Posada, D;Wiuf, C
编写了生物信息学工具以在具有重组的修改的结合下模拟单倍型和SNP。这个程序最重要的特点是它允许指定非同质重组率，这导致形成所谓的人类基因组的“单倍型块”。该程序还实现了不同的突变模型和灵活的人口统计历史。所产生的样本对于更好地理解人类基因组的结构以及研究其在寻找疾病基因的关联研究中的影响非常有用。
A bioinformatic tool was written to simulate haplotypes and SNPs under a modified coalescent with recombination. The most important feature of this program is that it allows for the specification of non-homogeneous recombination rates, which results in the formation of the so-called 'haplotype blocks' of the human genome. The program also implements different mutation models and flexible demographic histories. The samples generated can be very useful to better understand the architecture of the human genome and to investigate its impact in association studies searching for disease genes.