Identity by descent in population data

项目摘要 单倍型是染色体上的等位基因序列。两个单倍型相同， 如果他们是从一个共同的祖先继承的。血统认同（IBD） 在人口样本中发现的频率很高， 高密度SNP阵列或序列数据。IBD片段可用于计算 在许多与健康相关的应用中， 群体遗传参数和进行遗传关联测试。 我们建议开发用于检测IBD片段的改进方法，特别关注 对IBD细分终点的不确定性进行量化。我们还将开发使用 IBD片段，以估计突变率、迁移率、有效群体大小和 人口分裂时间

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.