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Efficiency and power in genetic association studies.基因关联研究中的效率与效能
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2
Linkage disequilibrium mapping of quantitative-trait Loci by selective genotyping.通过选择基因分型对数量性状位点进行连锁不平衡作图。
Am J Hum Genet. 2005 Oct;77(4):661-9. doi: 10.1086/491658. Epub 2005 Aug 15.
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Association of the dopamine transporter (DAT1) 10/10-repeat genotype with ADHD symptoms and response inhibition in a general population sample.多巴胺转运体(DAT1)10/10重复基因型与普通人群样本中注意力缺陷多动障碍症状及反应抑制的关联。
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Use of unphased multilocus genotype data in indirect association studies.在间接关联研究中使用未分型的多位点基因型数据。
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Detecting disease associations due to linkage disequilibrium using haplotype tags: a class of tests and the determinants of statistical power.利用单倍型标签检测由连锁不平衡引起的疾病关联:一类检验方法及统计效能的决定因素。
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Linkage disequilibrium mapping of quantitative trait loci under truncation selection.截断选择下数量性状基因座的连锁不平衡定位
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通过选择性基因分型对数量性状位点进行连锁不平衡定位时,评分检验所提供的效能提升。

Improved power offered by a score test for linkage disequilibrium mapping of quantitative-trait loci by selective genotyping.

作者信息

Wallace Chris, Chapman Juliet M, Clayton David G

机构信息

Department of Clinical Pharmacology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, United Kingdom.

出版信息

Am J Hum Genet. 2006 Mar;78(3):498-504. doi: 10.1086/500562. Epub 2006 Jan 5.

DOI:10.1086/500562
PMID:16465623
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1380292/
Abstract

Selective genotyping is used to increase efficiency in genetic association studies of quantitative traits by genotyping only those individuals who deviate from the population mean. However, selection distorts the conditional distribution of the trait given genotype, and such data sets are usually analyzed using case-control methods, quantitative analysis within selected groups, or a combination of both. We show that Hotelling's T(2) test, recently proposed for association studies of one or several tagging single-nucleotide polymorphisms in a prospective (i.e., trait given genotype) design, can also be applied to the retrospective (i.e., genotype given trait) selective-genotyping design, and we use simulation to demonstrate its improved power over existing methods.

摘要

选择性基因分型用于通过仅对那些偏离群体均值的个体进行基因分型来提高数量性状遗传关联研究的效率。然而,选择会扭曲给定基因型下性状的条件分布,并且此类数据集通常使用病例对照方法、选定组内的定量分析或两者结合的方法进行分析。我们表明,最近提出的用于前瞻性(即给定基因型的性状)设计中一个或几个标签单核苷酸多态性关联研究的霍特林T(2)检验,也可应用于回顾性(即给定性状的基因型)选择性基因分型设计,并且我们通过模拟证明其相对于现有方法具有更高的检验效能。