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

TLDR

The Infinium HumanMethylation450 array offers a cost‑effective, high‑throughput assay for ~450 000 DNA methylation loci and is expected to become the most widely used platform in the coming years. Minfi is structured to accommodate future array versions and provides preprocessing, quality assessment, and detection of differentially methylated regions from kilobase to megabase scales. The package implements state‑of‑the‑art statistical methods, delivering a flexible development platform that enables discoveries previously achievable only with sequencing‑based technologies. The software is freely available on Bioconductor (http://bioconductor.org/packages/release/bioc/html/minfi.html); authors can be contacted at [e-mail] or [e-mail], and supplementary data are provided online.

Abstract

Abstract 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: http://bioconductor.org/packages/release/bioc/html/minfi.html. Contact: [e-mail]; [e-mail] Supplementary information: Supplementary data are available at Bioinformatics online.