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Estimation of copy number in polyploid plants: the good, the bad, and the ugly

机译:多倍体植物中拷贝数的估计:好,坏和丑陋

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Genetic studies in polyploid plants rely heavily on the collection of data from dominant marker loci. A dominant marker locus is a locus for which only the presence or absence of an observable (dominant) allele is recorded. Before these marker loci can be used for genetic exploration, the number of copies of a dominant allele carried by a parent (copy number) must be determined for each marker locus. Copy number in polyploids is estimated using a hypothesis testing procedure. The performance of this estimation procedure has never been evaluated. In this paper, I quantify whether the highly sought after single-copy markers can be accurately identified, if the performance of the estimation procedure improves with increasing sample size, and whether the estimation procedure is capable of accurately estimating the copy number of high copy markers. I found that the probability of incorrectly estimating copy number is quite low and that more data can actually reduce the accuracy of the estimation procedure when the testing assumptions are violated. Fortunately, when a significant result is obtained, it is almost always correct. The challenge often is in obtaining a significant result.
机译:多倍体植物的遗传研究严重依赖于来自显性标记基因座的数据收集。显性标记基因座是仅记录可观察(显性)等位基因存在或不存在的基因座。在将这些标记基因座用于遗传探索之前,必须为每个标记基因座确定亲本携带的显性等位基因的拷贝数(拷贝数)。使用假设检验程序估算多倍体的拷贝数。此评估程序的性能从未评估过。在本文中,我量化了是否可以准确识别出高度追求的单拷贝标记,估计程序的性能是否随样本数量的增加而提高,以及估计程序是否能够准确估计高拷贝标记的拷贝数。我发现错误估计拷贝数的可能性非常低,并且在违反测试假设时,更多数据实际上会降低估计过程的准确性。幸运的是,当获得重要结果时,几乎总是正确的。挑战通常在于获得重要的结果。

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