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全基因组扫描中的真阳性和假阳性峰值:简而言之。

True and false positive peaks in genomewide scans: The long and the short of it.

作者信息

Visscher P, Haley C

机构信息

Institute of Cell, Animal and Population Biology, University of Edinburgh, West Mains Road, Edinburgh EH9 3JT, United Kingdom.

出版信息

Genet Epidemiol. 2001 May;20(4):409-14. doi: 10.1002/gepi.1010.

Abstract

When performing a genome scan in linkage or linkage disequilibrium studies to detect loci underlying complex or quantitative traits, it is important to attempt to distinguish between true and false positives using the appropriate statistical methods. There has been some controversy in the literature regarding the use of the length of a positive peak, i.e., the length of a chromosome region displaying identity-by-descent in linkage studies among affected individuals or the length of a continuous chromosome region for which the test statistic is above a certain threshold. We show in this study, by reasoning and by simulation studies, that conditional on the strength of evidence for a locus affecting a trait of interest, i.e., conditional on the peak height of a test statistic, there is no information in the length of the peak. Our finding has implications for linkage and association studies.

摘要

在进行连锁或连锁不平衡研究以检测复杂或数量性状潜在基因座的基因组扫描时,使用适当的统计方法来区分真阳性和假阳性非常重要。关于使用阳性峰的长度,即连锁研究中受影响个体间显示同源性的染色体区域长度,或检验统计量高于某个阈值的连续染色体区域长度,文献中存在一些争议。我们在本研究中通过推理和模拟研究表明,在影响感兴趣性状的基因座的证据强度条件下,即检验统计量的峰高条件下,峰的长度没有信息。我们的发现对连锁和关联研究具有启示意义。

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