VALID: visualization of association study results and linkage disequilibrium.

VALID: visualization of association study results and linkage disequilibrium.
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DOI:
10.1002/gepi.20411
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发表时间:
2009-11
影响因子:
2.1
通讯作者:
Witte, John S.
Witte, John S.
中科院分区:
医学4区
文献类型:
--
作者:
Jorgenson, Eric;Kvale, Mark;Witte, John S.

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遗传关联研究中有希望的发现通常以两种不同的图形呈现:一种给出关联研究结果,另一种表示感兴趣区域遗传标记之间的连锁不平衡(LD)。充分解释这些研究的结果需要综合这些数字中的信息,这通常是以主观和不系统的方式完成的。本文提出了一种将关联结果与LD形式化结合并在同一图中显示的方法;我们开发了一个免费的基于web的应用程序,可用于生成显示合并数据的图形。为了证明这种方法,我们将其应用于前列腺癌8q24位点的精细制图数据。将这两种信息来源结合在一起,可以更清楚地评估关联模式,促进对全基因组和精细测绘数据的解释,并提高我们定位因果变异的能力。
Promising findings from genetic association studies are commonly presented with two distinct figures: one gives the association study results and the other indicates linkage disequilibrium (LD) between genetic markers in the region(s) of interest. Fully interpreting the results of such studies requires synthesizing the information in these figures, which is generally done in a subjective and unsystematic manner. Here we present a method to formally combine association results and LD and display them in the same figure; we have developed a freely available web-based application that can be used to generate figures to display the combined data. To demonstrate this approach we apply it to fine mapping data from the prostate cancer 8q24 loci. Combining these two sources of information in a single figure allows one to more clearly assess patterns of association, facilitating the interpretation of genome-wide and fine mapping data and improving our ability to localize causal variants.
病例对照全基因组关联研究中 SNP 基因型的崩溃增加了 I 型错误率和功效
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