利用UKBEC数据集进行表达微阵列与rna测序的比较,鉴定出一个与黑质MPZ基因相关的反式eqtl。

Letitia M F Sng, Peter C Thomson, Daniah Trabzuni
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摘要

近年来,rna测序(RNA-Seq)的优势使其成为传统微阵列测量基因表达的首选平台。然而,RNA-Seq带来了生物信息学上的挑战和更高的计算成本。因此,本研究开始评估RNA-Seq促进转录组信息深度的增加是否值得在微阵列上增加计算,特别是在三个层面:绝对表达水平、差异表达基因鉴定和人类大脑区域的表达QTL (eQTL)定位。使用英国脑表达联盟(UKBEC)数据集,在定量绝对表达水平和鉴定差异表达基因时,通过微阵列和RNA-seq测量的基因表达水平高度一致。这些发现表明,根据研究的目的,处理微阵列数据的相对容易程度可能超过RNA-Seq管道的计算时间和成本。另一方面,在绘制eqtl时,一致性较低。然而,在两个平台上都发现了一些与大脑中起重要作用的基因相关的eqtl。例如,在黑质中定位了一个与MPZ基因相关的反式eqtl。我们所强调的这些等效qtl是非常有希望的候选者,值得进一步研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Comparison Between Expression Microarrays and RNA-Sequencing Using UKBEC Dataset Identified a trans-eQTL Associated with MPZ Gene in Substantia Nigra.

In recent years, the advantages of RNA-sequencing (RNA-Seq) have made it the platform of choice for measuring gene expression over traditional microarrays. However, RNA-Seq comes with bioinformatical challenges and higher computational costs. Therefore, this study set out to assess whether the increased depth of transcriptomic information facilitated by RNA-Seq is worth the increased computation over microarrays, specifically at three levels: absolute expression levels, differentially expressed genes identification, and expression QTL (eQTL) mapping in regions of the human brain. Using the United Kingdom Brain Expression Consortium (UKBEC) dataset, there is high agreement of gene expression levels measured by microarrays and RNA-seq when quantifying absolute expression levels and when identifying differentially expressed genes. These findings suggest that depending on the aims of a study, the relative ease of working with microarray data may outweigh the computational time and costs of RNA-Seq pipelines. On the other, there was low agreement when mapping eQTLs. However, a number of eQTLs associated with genes that play important roles in the brain were found in both platforms. For example, a trans-eQTL was mapped that is associated with the MPZ gene in the substantia nigra. These eQTLs that we have highlighted are extremely promising candidates that merit further investigation.

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