Won Sungho, Kim Youngdoe, Lange Christoph
Department of Applied Statistics, Chung-Ang University, Seoul, Korea.
Hum Hered. 2013;76(2):76-85. doi: 10.1159/000357643. Epub 2014 Jan 14.
Various analytical approaches have been suggested for the characterization of rare variants. One main approach is to collapse the genetic information of rare variants in a region and to construct an overall test statistic. Here, we proposed a new approach based on collapsed genotype scores. By utilizing the information of the association signal that is ignored in collapsing methods, i.e. the configuration of rare alleles, we constructed a more powerful test and compared it with existing rare-variant approaches. With extensive simulation studies, we showed that our method performs better than existing approaches, and we applied our method to a sequencing study of nonsyndromic cleft lip illustrating the practical advantages of the proposed method.
针对罕见变异的特征描述，人们提出了各种分析方法。一种主要方法是汇总一个区域内罕见变异的遗传信息，并构建一个总体检验统计量。在此，我们提出了一种基于汇总基因型分数的新方法。通过利用在汇总方法中被忽略的关联信号信息，即罕见等位基因的配置，我们构建了一个更强大的检验方法，并将其与现有的罕见变异方法进行了比较。通过广泛的模拟研究，我们表明我们的方法比现有方法表现更好，并且我们将我们的方法应用于非综合征性唇裂的测序研究，以说明所提出方法的实际优势。
