Journal
BMC GENOMICS
Volume 21, Issue 1, Pages -Publisher
BMC
DOI: 10.1186/s12864-020-06856-9
Keywords
Bioconductor package; Differential expression; Gene regulation; Multi-omics; Single-cell profiling; Pathway analysis; Gene set enrichment analysis; Multivariate statistics
Funding
- Australian Government through the National Collaborative Research Infrastructure Strategy (NCRIS)
- Victorian Government's Operational Infrastructure Support Program
- NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS)
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BackgroundInference of biological pathway activity via gene set enrichment analysis is frequently used in the interpretation of clinical and other omics data. With the proliferation of new omics profiling approaches and ever-growing size of data sets generated, there is a lack of tools available to perform and visualise gene set enrichments in analyses involving multiple contrasts.ResultsTo address this, we developed mitch, an R package for multi-contrast gene set enrichment analysis. It uses a rank-MANOVA statistical approach to identify sets of genes that exhibit joint enrichment across multiple contrasts. Its unique visualisation features enable the exploration of enrichments in up to 20 contrasts. We demonstrate the utility of mitch with case studies spanning multi-contrast RNA expression profiling, integrative multi-omics, tool benchmarking and single-cell RNA sequencing. Using simulated data we show that mitch has similar accuracy to state of the art tools for single-contrast enrichment analysis, and superior accuracy in identifying multi-contrast enrichments.Conclusionmitch is a versatile tool for rapidly and accurately identifying and visualising gene set enrichments in multi-contrast omics data. Mitch is available from Bioconductor (https://bioconductor.org/packages/mitch).
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