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基因集分析在遗传学研究应用中的陷阱。

Pitfalls in the application of gene-set analysis to genetics studies.

作者信息

Sedeño-Cortés Adriana Estela, Pavlidis Paul

出版信息

Trends Genet. 2014 Dec;30(12):513-4. doi: 10.1016/j.tig.2014.10.001.

DOI:10.1016/j.tig.2014.10.001
PMID:25459301
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5369409/
Abstract

Gene-set analysis (GSA) (‘enrichment’) is a popular approach for the interpretation of genome-wide association studies (GWASs). GSA is most commonly applied to the analysis of transcriptomes, but from the outset it has been considered useful for any study that provides rankings or ‘hit lists’ of genes. The recent review by Mooney et al. [1] is a valuable resource for geneticists wishing to apply GSA to the output of GWASs. Here we describe some additional points of practical importance if the methods are to be applied and interpreted soundly.

摘要

基因集分析(GSA)(“富集分析”)是解释全基因组关联研究(GWAS)的一种常用方法。GSA最常用于转录组分析,但从一开始就被认为对任何提供基因排名或“命中列表”的研究都有用。Mooney等人[1]最近的综述对于希望将GSA应用于GWAS结果的遗传学家来说是一份宝贵的资源。在此,我们描述了一些在合理应用和解释这些方法时具有实际重要性的额外要点。

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