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RNA测序数据的基因集分析方法:性能评估与应用指南

Gene set analysis approaches for RNA-seq data: performance evaluation and application guideline.

作者信息

Rahmatallah Yasir, Emmert-Streib Frank, Glazko Galina

出版信息

Brief Bioinform. 2016 May;17(3):393-407. doi: 10.1093/bib/bbv069. Epub 2015 Sep 4.

Abstract

Transcriptome sequencing (RNA-seq) is gradually replacing microarrays for high-throughput studies of gene expression. The main challenge of analyzing microarray data is not in finding differentially expressed genes, but in gaining insights into the biological processes underlying phenotypic differences. To interpret experimental results from microarrays, gene set analysis (GSA) has become the method of choice, in particular because it incorporates pre-existing biological knowledge (in a form of functionally related gene sets) into the analysis. Here we provide a brief review of several statistically different GSA approaches (competitive and self-contained) that can be adapted from microarrays practice as well as those specifically designed for RNA-seq. We evaluate their performance (in terms of Type I error rate, power, robustness to the sample size and heterogeneity, as well as the sensitivity to different types of selection biases) on simulated and real RNA-seq data. Not surprisingly, the performance of various GSA approaches depends only on the statistical hypothesis they test and does not depend on whether the test was developed for microarrays or RNA-seq data. Interestingly, we found that competitive methods have lower power as well as robustness to the samples heterogeneity than self-contained methods, leading to poor results reproducibility. We also found that the power of unsupervised competitive methods depends on the balance between up- and down-regulated genes in tested gene sets. These properties of competitive methods have been overlooked before. Our evaluation provides a concise guideline for selecting GSA approaches, best performing under particular experimental settings in the context of RNA-seq.

摘要

转录组测序(RNA-seq)正逐渐取代微阵列用于基因表达的高通量研究。分析微阵列数据的主要挑战不在于寻找差异表达基因,而在于深入了解表型差异背后的生物学过程。为了解释微阵列实验结果,基因集分析(GSA)已成为首选方法,特别是因为它将预先存在的生物学知识(以功能相关基因集的形式)纳入分析。在这里,我们简要回顾几种统计上不同的GSA方法(竞争性和自含式),这些方法既可以从微阵列实践中改编而来,也有专门为RNA-seq设计的。我们在模拟和真实的RNA-seq数据上评估它们的性能(根据I型错误率、功效、对样本大小和异质性的稳健性以及对不同类型选择偏差的敏感性)。不出所料,各种GSA方法的性能仅取决于它们所检验的统计假设,而不取决于该检验是为微阵列数据还是RNA-seq数据开发的。有趣的是,我们发现竞争性方法相对于自含式方法具有更低的功效以及对样本异质性的稳健性,导致结果重现性较差。我们还发现无监督竞争性方法的功效取决于测试基因集中上调和下调基因之间的平衡。竞争性方法的这些特性以前被忽视了。我们的评估为在RNA-seq背景下特定实验设置下选择表现最佳的GSA方法提供了简明指南。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/18e7/4870397/b102d8222c9c/bbv069f1p.jpg

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