一种典型的等位基因关联测度
A Canonical Measure of Allelic Association
摘要：
双等位基因成对关联的测量称为连锁不平衡（LD），是理解基因组结构的重要问题。文献中提出了大量此类关联措施。我们提出并证明了六个生物统计假设，这应该是一个典型的措施LD履行。简而言之，LD测度被定义为概率表到实数集的映射。在独立的情况下，它们应该为零，如果其中一个项接近零，而边缘是有界的，则它们应该为极值。它们应该反映表的对称群，并且在边缘的某些变换下是不变的（选择不变性）。相对于校准对称分布，该尺度应具有最大熵。一般而言，没有一项既定措施能够满足所有这些特性。我们证明，有一个唯一的典型措施LD的校准分布的每一个选择。我们比较了典型的LD措施与其他候选人从文献中。我们建议在评估SNP阵列数据的连锁不平衡时，使用Jeffreys的无信息先验分布的典型度量。在第二部分中，我们考虑各种估计的理论LD措施讨论和比较它们在模拟研究。
英文摘要：
The measurement of biallelic pair-wise association called linkage disequilibrium (LD) is an important issue in order to understand the genomic architecture. A large variety of such measures of association have been proposed in the literature. We propose and justify six biometrical postulates which should be fulfilled by a canonical measure of LD. In short, LD measures are defined as a mapping of probability tables to the set of real numbers. They should be zero in case of independence and extremal if one of the entries approaches zero while the marginals are positively bounded. They should reflect the symmetry group of the tables and be invariant under certain transformations of the marginals (selection invariance). There scale should have maximum entropy relative to a calibrating symmetric distribution. None of the established measures fulfil all of these properties in general. We prove that there is a unique canonical measure of LD for each choice of a calibrating distribution. We compa- re the canonical LD measures with other candidates from the literature. We recommend the canonical measure derived from Jeffreys' non-informative prior distribution when assessing linkage disequilibrium of SNP array data. In a second part, we consider various estimators for the theoretical LD measures discussed and compare them in a simulation study.
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