Xu Shizhong
Department of Botany and Plant Sciences, University of California, Riverside, California 92521, USA.
Genetics. 2003 Dec;165(4):2259-68. doi: 10.1093/genetics/165.4.2259.
The core of statistical inference is based on both hypothesis testing and estimation. The use of inferential statistics for QTL identification thus includes estimation of genetic effects and statistical tests. Typically, QTL are reported only when the test statistics reach a predetermined critical value. Therefore, the estimated effects of detected QTL are actually sampled from a truncated distribution. As a result, the expectations of detected QTL effects are biased upward. In a simulation study, William D. Beavis showed that the average estimates of phenotypic variances associated with correctly identified QTL were greatly overestimated if only 100 progeny were evaluated, slightly overestimated if 500 progeny were evaluated, and fairly close to the actual magnitude when 1000 progeny were evaluated. This phenomenon has subsequently been called the Beavis effect. Understanding the theoretical basis of the Beavis effect will help interpret QTL mapping results and improve success of marker-assisted selection. This study provides a statistical explanation for the Beavis effect. The theoretical prediction agrees well with the observations reported in Beavis's original simulation study. Application of the theory to meta-analysis of QTL mapping is discussed.
统计推断的核心基于假设检验和估计。因此,用于QTL定位的推断统计学方法包括遗传效应估计和统计检验。通常,只有当检验统计量达到预定的临界值时才会报告QTL。因此,检测到的QTL的估计效应实际上是从一个截尾分布中抽样得到的。结果,检测到的QTL效应的期望值向上偏倚。在一项模拟研究中,威廉·D·比维斯表明,如果只评估100个后代,与正确鉴定的QTL相关的表型方差的平均估计值会被大大高估;如果评估500个后代,则会被略微高估;而当评估1000个后代时,则相当接近实际大小。这种现象随后被称为比维斯效应。理解比维斯效应的理论基础将有助于解释QTL定位结果,并提高标记辅助选择的成功率。本研究为比维斯效应提供了一个统计学解释。理论预测与比维斯原始模拟研究中报告的观察结果非常吻合。讨论了该理论在QTL定位荟萃分析中的应用。