Maximum-likelihood estimation of recent shared ancestry (ERSA)
Maximum-likelihood estimation of recent shared ancestry (ERSA)
复制标题
DOI：
10.1101/gr.115972.110
复制
发表时间：
2011-05-01
期刊：
影响因子：
7
通讯作者：
Jorde, Lynn B.
中科院分区：
文献类型：
--
作者：
Huff, Chad D.;Witherspoon, David J.;Jorde, Lynn B.
准确估计最近的共同祖先对于遗传学、进化、医学、保护生物学和法医学都很重要。建立的方法可以准确地估计一级到三级亲属的亲属关系。我们证明，染色体片段共享的两个人由于身份的血统（IBD）提供了更多的信息共享的祖先。我们开发了一种最大似然方法，用于从高密度SNP或全基因组序列数据中获得的IBD片段的数量和长度估计最近的共同祖先（ERSA）。我们使用ERSA来估计来自三个大型的、明确定义的人类谱系的169个个体的SNP基因型的关系。ERSA对97%的一级至五级亲属和80%的六级和七级亲属的关系准确到一个程度。我们证明，ERSA的统计能力接近最大的理论极限所施加的事实，远亲经常没有共享DNA通过一个共同的祖先。ERSA极大地扩展了可以从遗传数据中估计的关系的范围，并在免费提供的软件包中实现。
Accurate estimation of recent shared ancestry is important for genetics, evolution, medicine, conservation biology, and forensics. Established methods estimate kinship accurately for first-degree through third-degree relatives. We demonstrate that chromosomal segments shared by two individuals due to identity by descent (IBD) provide much additional information about shared ancestry. We developed a maximum-likelihood method for the estimation of recent shared ancestry (ERSA) from the number and lengths of IBD segments derived from high-density SNP or whole-genome sequence data. We used ERSA to estimate relationships from SNP genotypes in 169 individuals from three large, well-defined human pedigrees. ERSA is accurate to within one degree of relationship for 97% of first-degree through fifth-degree relatives and 80% of sixth-degree and seventh-degree relatives. We demonstrate that ERSA's statistical power approaches the maximum theoretical limit imposed by the fact that distant relatives frequently share no DNA through a common ancestor. ERSA greatly expands the range of relationships that can be estimated from genetic data and is implemented in a freely available software package.