Triadic IBD coefficients and applications to estimating pairwise relatedness.

Jinliang Wang
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引用次数: 345

Abstract

Knowledge of the genetic relatedness among individuals is essential in diverse research areas such as behavioural ecology, conservation biology, quantitative genetics and forensics. How to estimate relatedness accurately from genetic marker information has been explored recently by many methodological studies. In this investigation I propose a new likelihood method that uses the genotypes of a triad of individuals in estimating pairwise relatedness (r). The idea is to use a third individual as a control (reference) in estimating the r between two other individuals, thus reducing the chance of genes identical in state being mistakenly inferred as identical by descent. The new method allows for inbreeding and accounts for genotype errors in data. Analyses of both simulated and human microsatellite and SNP datasets show that the quality of r estimates (measured by the root mean squared error, RMSE) is generally improved substantially by the new triadic likelihood method (TL) over the dyadic likelihood method and five moment estimators. Simulations also show that genotyping errors/mutations, when ignored, result in underestimates of r for related dyads, and that incorporating a model of typing errors in the TL method improves r estimates for highly related dyads but impairs those for loosely related or unrelated dyads. The effects of inbreeding were also investigated through simulations. It is concluded that, because most dyads in a natural population are unrelated or only loosely related, the overall performance of the new triadic likelihood method is the best, offering r estimates with a RMSE that is substantially smaller than the five commonly used moment estimators and the dyadic likelihood method.

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三合一IBD系数及其在两两相关性估计中的应用。
在行为生态学、保护生物学、数量遗传学和法医学等不同的研究领域,个体之间的遗传关系知识是必不可少的。近年来,许多方法学研究都在探索如何从遗传标记信息中准确地估计亲缘关系。在本研究中,我提出了一种新的似然方法,该方法使用三个个体的基因型来估计两两亲缘关系(r)。其想法是使用第三个个体作为对照(参考)来估计其他两个个体之间的r,从而减少状态相同的基因被错误地推断为遗传相同的机会。新方法允许近亲繁殖,并解释了数据中的基因型错误。对模拟和人类微卫星和SNP数据集的分析表明,与二进似然方法和五矩估计方法相比,新的三进似然方法(TL)的r估计质量(以均方根误差(RMSE)衡量)总体上有很大提高。模拟还表明,如果忽略基因分型错误/突变,则会导致相关二联体的r值被低估,并且在TL方法中纳入分型错误模型可以提高高度相关二联体的r值,但会损害那些松散相关或不相关二联体的r值。通过模拟研究了近交的影响。结论是,由于自然种群中的大多数二元是不相关的或只是松散相关的,因此新的三元似然方法的总体性能是最好的,它提供的r估计的RMSE大大小于五种常用的矩估计和二元似然方法。
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