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Minfi: a flexible and comprehensive Bioconductor package for the analysis of Infinium DNA methylation microarrays

机译:Minfi:一种灵活而全面的生物导体套件用于分析Infinium DNA甲基化微阵列

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摘要

>Motivation: The recently released Infinium HumanMethylation450 array (the ‘450k’ array) provides a high-throughput assay to quantify DNA methylation (DNAm) at ∼450 000 loci across a range of genomic features. Although less comprehensive than high-throughput sequencing-based techniques, this product is more cost-effective and promises to be the most widely used DNAm high-throughput measurement technology over the next several years.>Results: Here we describe a suite of computational tools that incorporate state-of-the-art statistical techniques for the analysis of DNAm data. The software is structured to easily adapt to future versions of the technology. We include methods for preprocessing, quality assessment and detection of differentially methylated regions from the kilobase to the megabase scale. We show how our software provides a powerful and flexible development platform for future methods. We also illustrate how our methods empower the technology to make discoveries previously thought to be possible only with sequencing-based methods.>Availability and implementation: .>Contact: ; >Supplementary information: are available at Bioinformatics online.
机译:>动机::最近发布的Infinium HumanMethylation450阵列(“ 450k”阵列)提供了一种高通量测定方法,可在一系列基因组特征中量化在约450 000个基因位处的DNA甲基化(DNAm)。尽管该产品不如基于高通量测序的技术全面,但该产品更具成本效益,有望成为未来几年使用最广泛的DNAm高通量测量技术。>结果:描述了一组计算工具,这些工具结合了用于分析DNAm数据的最新统计技术。该软件的结构可轻松适应该技术的未来版本。我们包括从千碱基到兆碱基规模的甲基化差异区域的预处理,质量评估和检测方法。我们展示了我们的软件如何为将来的方法提供强大而灵活的开发平台。我们还说明了我们的方法如何使技术能够使以前认为只能通过基于序列的方法才能进行发现。>可用性和实现:。>联系方式:; >补充信息:可在线访问生物信息学。

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