Genomic imprinting is an epigenetic mechanism that leads to differential contributions of maternal and paternal alleles to offspring gene expression in a parent-of-origin manner. We propose a novel test for detecting the parent-of-origin effects (POEs) in genome wide genotype data from related individuals (twins) when the parental origin cannot be inferred. The proposed method exploits a finite mixture of linear mixed models: the key idea is that in the case of POEs the population can be clustered in two different groups in which the reference allele is inherited by a different parent. A further advantage of this approach is the possibility to obtain an estimation of parental effect when the parental information is missing. We will also show that the approach is flexible enough to be applicable to the general scenario of independent data. The performance of the proposed test is evaluated through a wide simulation study. The method is finally applied to known imprinted genes of the MuTHER twin study data.

中文翻译：

---

当父母信息缺失时检测父母来源效应的统计测试

基因组印记是一种表观遗传机制，它导致母本和父本等位基因以亲本方式对后代基因表达的不同贡献。我们提出了一种新的测试方法，用于在无法推断父母来源时检测来自相关个体（双胞胎）的全基因组基因型数据中的父母来源效应（POE）。所提出的方法利用了线性混合模型的有限混合：关键思想是，在 POE 的情况下，群体可以聚集在两个不同的组中，其中参考等位基因由不同的父母继承。这种方法的另一个优点是当父母信息缺失时可以获得父母影响的估计的可能性。我们还将证明该方法足够灵活，可以适用于独立数据的一般场景。提议的测试的性能通过广泛的模拟研究进行评估。该方法最终应用于 MuTHER 双胞胎研究数据的已知印迹基因。