J

Jovana Maksimovic

The University of Melbourne

ORCID: 0000-0002-9458-3061

Publishes on Epigenetics and DNA Methylation, Neonatal Respiratory Health Research, Genomics and Chromatin Dynamics. 72 papers and 3.9k citations.

72Publications
3.9kTotal Citations

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Top publicationsby citations

missMethyl: an R package for analyzing data from Illumina’s HumanMethylation450 platform
Cited by 978

UNLABELLED: DNA methylation is one of the most commonly studied epigenetic modifications due to its role in both disease and development. The Illumina HumanMethylation450 BeadChip is a cost-effective way to profile >450 000 CpGs across the human genome, making it a popular platform for profiling DNA methylation. Here we introduce missMethyl, an R package with a suite of tools for performing normalization, removal of unwanted variation in differential methylation analysis, differential variability testing and gene set analysis for the 450K array. AVAILABILITY AND IMPLEMENTATION: missMethyl is an R package available from the Bioconductor project at www.bioconductor.org. CONTACT: alicia.oshlack@mcri.edu.au SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

SWAN: Subset-quantile Within Array Normalization for Illumina Infinium HumanMethylation450 BeadChips
Cited by 886Open Access

DNA methylation is the most widely studied epigenetic mark and is known to be essential to normal development and frequently disrupted in disease. The Illumina HumanMethylation450 BeadChip assays the methylation status of CpGs at 485,577 sites across the genome. Here we present Subset-quantile Within Array Normalization (SWAN), a new method that substantially improves the results from this platform by reducing technical variation within and between arrays. SWAN is available in the minfi Bioconductor package.

A cross-package Bioconductor workflow for analysing methylation array data
Cited by 191Open Access

Methylation in the human genome is known to be associated with development and disease. The Illumina Infinium methylation arrays are by far the most common way to interrogate methylation across the human genome. This paper provides a Bioconductor workflow using multiple packages for the analysis of methylation array data. Specifically, we demonstrate the steps involved in a typical differential methylation analysis pipeline including: quality control, filtering, normalization, data exploration and statistical testing for probe-wise differential methylation. We further outline other analyses such as differential methylation of regions, differential variability analysis, estimating cell type composition and gene ontology testing. Finally, we provide some examples of how to visualise methylation array data.