Identity by descent in population data

项目总结 单倍型是染色体上的一系列等位基因。两个单倍型完全相同 如果他们是从共同的祖先那里继承下来的，那么他们就是后代。血统认同的片段(IBD) 在人群样本中发现的频率很高，并可以在 高密度SNP阵列或序列数据。IBD数据段可用于计算 在许多与健康相关的应用中进行高效和准确的评估，包括评估 群体遗传参数和进行遗传关联测试。 我们建议开发改进的方法来检测IBD节段，尤其是重点 关于量化IBD节段终点的不确定性。我们还将开发使用 IBD片段，以估计突变率、迁移率、有效种群大小和 人口分裂的时代。

Project summary A haplotype is a sequence of alleles on a chromosome. Two haplotypes are identical by descent if they are inherited from a common ancestor. Segments of identity by descent (IBD) are found at high frequency in population samples and can be detected with high accuracy in high density SNP array or sequence data. IBD segments can be used for computationally efficient and accurate estimation in many health-related applications including estimating population genetic parameters and performing genetic association testing. We propose to develop improved methodology for detecting IBD segments, with particular focus on quantifying uncertainty in IBD segment endpoints. We will also develop methods that use IBD segments to estimate mutation rates, migration rates, effective population sizes, and population split times.