Identity by descent in population data

人口数据中的血统身份

• 批准号: 9195297
• 负责人: Sharon Browning
• 金额: $ 35.46万
• 依托单位: UNIVERSITY OF WASHINGTON
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-08-25 至 2020-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9195297
• 关键词: Accounting; Alleles; Binding; Chromosomes; DNA; Data; Demography; Detection; Event; Foundations; Frequencies; Funding; Genetic; Genetic Materials; Genetic Recombination; Genome; Genotype; Haplotypes; Health; Heritability; Human; Inherited; Length; Light; Location; Meiosis; Methodology; Methods; Mutation; Phenotype; Population; Population Genetics; Population Sizes; Process; Recording of previous events; SNP array; Sampling; Series; Testing; Time; Uncertainty; Work; base; density; genetic association; identity by descent; improved; migration; novel; rate of change

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.

项目概要 单倍型是染色体上的等位基因序列。两个单倍型相同 血统，如果他们是从共同祖先继承的。血统身份片段 (IBD) 在人群样本中出现的频率很高，并且可以在 高密度 SNP 阵列或序列数据。 IBD 段可用于计算 在许多与健康相关的应用中进行高效、准确的估计，包括估计 群体遗传参数并进行遗传关联测试。 我们建议开发改进的方法来检测 IBD 细分，特别关注 关于量化 IBD 段终点的不确定性。我们还将开发使用的方法 IBD 片段用于估计突变率、迁移率、有效种群规模和 人口分裂时间。