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README.md
# epiRomics: a multi-omics R package to identify and visualize enhancers [![R-CMD-check](https://github.com/Huising-Lab/epiRomics/actions/workflows/R-CMD-check.yaml/badge.svg)](https://github.com/Huising-Lab/epiRomics/actions/workflows/R-CMD-check.yaml) [![BiocCheck](https://github.com/Huising-Lab/epiRomics/actions/workflows/BiocCheck.yaml/badge.svg)](https://github.com/Huising-Lab/epiRomics/actions/workflows/BiocCheck.yaml) [![Coverage](https://img.shields.io/badge/coverage-98%25-brightgreen)](tests/) [![License: Artistic-2.0](https://img.shields.io/badge/License-Artistic--2.0-blue.svg)](https://opensource.org/licenses/Artistic-2.0) [![Altmetric](https://img.shields.io/badge/Altmetric-10.1101%2F2021.08.19.456732-blue.svg)](https://www.altmetric.com/details/112068712) An R package designed to integrate and visualize various levels of epigenomic information, including but not limited to: ChIP, Histone, ATAC, and RNA sequencing. epiRomics is also designed for regulatory network analysis in order to identify enhancer and enhanceosome regions from these data. Please contact <ammawla@ucdavis.edu> for suggestions, feedback, or bug reporting. ## Interactive Showcase of Package Explore epiRomics results interactively through our companion Shiny web applications: ### Shiny epiRomics Mouse Alpha, Beta, and Delta Cells Browser **[Shiny epiRomics Mouse Islet Enhanceosome Browser](https://www.huisinglab.com/epiRomics_2021/index.html)** — Interactive browser exploring mouse pancreatic islet enhancers and enhanceosome analysis results from our 2023 BMC Genomics publication. ***Paper:*** Alex M. Mawla, Talitha van der Meulen, Mark O. Huising. (2023). Chromatin accessibility differences between alpha, beta, and delta cells identifies common and cell type-specific enhancers. *BMC Genomics*. [10.1186/s12864-023-09293-6](https://link.springer.com/article/10.1186/s12864-023-09293-6) ### Shiny epiRomics Human Alpha and Beta Cells **[Shiny epiRomics Human Islet Enhanceosome Browser](https://huisinglab.shinyapps.io/Server_epiRomics_Shiny_Human/)** — Interactive browser exploring human pancreatic islet enhancer and enhanceosome analysis results used to create the example data and vignette for the epiRomics Package. ***Package:*** Alex M. Mawla & Mark O. Huising. (2021). epiRomics: a multi-omics R package to identify and visualize enhancers. *bioRxiv* 2021.08.19.456732. [10.1101/2021.08.19.456732](https://www.biorxiv.org/content/10.1101/2021.08.19.456732v2) ## Features - **Multi-omics Integration**: Seamlessly integrate ChIP-seq, ATAC-seq, RNA-seq, and histone modification data - **Enhancer Identification**: Identify putative enhancer regions using histone mark combinations - **Enhanceosome Analysis**: Detect enhanceosome regions through co-transcription factor analysis - **Memory-Efficient Processing**: Built-in BigWig caching for large-scale data analysis - **Comprehensive Visualization**: Generate publication-ready genomic tracks and plots - **Robust Error Handling**: Comprehensive parameter validation and error messages ## Installation ### Prerequisites epiRomics requires R version 4.5.0 or higher and several Bioconductor packages. Make sure you have the latest version of R and Bioconductor installed. ### Install from Bioconductor (recommended) ```r if (!requireNamespace("BiocManager", quietly = TRUE)) { install.packages("BiocManager") } BiocManager::install("epiRomics") library(epiRomics) # Optional: download the full example dataset (~1.3 GB, one-time, # cached via BiocFileCache). The package also ships a small toy # subset in `inst/extdata/toy/` that runs all examples without any # download. epiRomics::cache_data() ``` ### Install from GitHub (development / not recommended for regular users) > **Note:** The Bioconductor release channel is the supported install > path. GitHub installation is intended for developers tracking the > `main` branch between releases and is not advised for regular users. ```r if (!requireNamespace("BiocManager", quietly = TRUE)) { install.packages("BiocManager") } BiocManager::install("Huising-Lab/epiRomics") ``` ## Quick Start ```r # Load the package library(epiRomics) # Build epiRomics database database <- build_database( db_file = "path/to/your/data.csv", txdb_organism = "TxDb.Hsapiens.UCSC.hg38.knownGene", genome = "hg38", organism = "org.Hs.eg.db" ) # Identify putative enhancers enhancers <- find_enhancers_by_comarks( database = database, histone_mark_1 = "h3k4me1", histone_mark_2 = "h3k27ac" ) # Identify enhanceosomes enhanceosomes <- find_enhanceosomes( putative_enhancers = enhancers, database = database ) # Visualize results plot_tracks( enhanceosomes, index = 1, database = database, track_connection = your_track_data ) ``` ## Documentation - **pkgdown site** (live): <https://huising-lab.github.io/epiRomics/> — full reference manual, both vignettes, and changelog rendered as a browsable website. This is the best entry point while the Bioconductor landing page is still pending. - **Bioconductor landing page**: <https://bioconductor.org/packages/epiRomics/> (available after the package is accepted into a Bioconductor release). - **Vignettes** (after install): `browseVignettes("epiRomics")` - *Getting Started with epiRomics* — lightweight walkthrough using the bundled toy dataset - *Full Analysis with epiRomics* — complete human pancreatic islet analysis (uses `cache_data()`) - **Reference manual** (after install): `help(package = "epiRomics", help_type = "html")` ## Example Data Example data is downloaded on demand via `cache_data()` (~1.3 GB, cached locally after first download). The dataset focuses on delineating putative human pancreatic islet enhancers between alpha and beta cells and includes: - Human pancreatic islet alpha and beta ATAC-seq data from GEO accession [GSE76268](https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE76268) - ChIP-seq data for transcription factors Foxa2, MafB, Nkx2.2, Nkx6.1, and Pdx1 - Histone modification data (H3K27ac, H3K4me1,H3K27me3, H3K9me3, H3K4me3, H3K36me3, H2A.Z) - FANTOM5 human enhancer database - Human ultra-conserved non-coding elements (UCNEs) ## Citation If you use epiRomics, please cite: Alex M. Mawla, Talitha van der Meulen, Mark O. Huising. (2023). Chromatin accessibility differences between alpha, beta, and delta cells identifies common and cell type-specific enhancers. *BMC Genomics*. [10.1186/s12864-023-09293-6](https://link.springer.com/article/10.1186/s12864-023-09293-6) Alex M. Mawla & Mark O. Huising. (2021). epiRomics: a multi-omics R package to identify and visualize enhancers. *bioRxiv* 2021.08.19.456732. [10.1101/2021.08.19.456732](https://www.biorxiv.org/content/10.1101/2021.08.19.456732v2) ## Contributing We welcome contributions! Please feel free to submit issues, feature requests, or pull requests on our [GitHub repository](https://github.com/Huising-Lab/epiRomics). ## License This package is licensed under the [Artistic License 2.0](https://opensource.org/licenses/Artistic-2.0). See the [LICENSE](LICENSE) file for details. ## Contact For questions, suggestions, or bug reports, please contact: - **Maintainer**: Alex M. Mawla <ammawla@ucdavis.edu> - **GitHub Issues**: <https://github.com/Huising-Lab/epiRomics/issues> ## Troubleshooting ### Installation Issues **Problem**: Package dependencies fail to install <br> **Solution**: Make sure you have the latest version of R (≥ 4.5.0) and Bioconductor: ```r # Update R packages update.packages(ask = FALSE) # Update Bioconductor BiocManager::install(version = BiocManager::version()) # If installation fails, try installing core dependencies manually: BiocManager::install(c("AnnotationDbi", "annotatr", "BiocGenerics", "GenomeInfoDb", "GenomicFeatures", "GenomicRanges", "IRanges", "org.Hs.eg.db", "rtracklayer", "TxDb.Hsapiens.UCSC.hg38.knownGene", "data.table")) ``` **Problem**: Compilation errors on Linux <br> **Solution**: Install required system dependencies: ```bash # Ubuntu/Debian sudo apt-get update sudo apt-get install -y libxml2-dev libcurl4-openssl-dev libssl-dev # CentOS/RHEL sudo yum install libxml2-devel openssl-devel libcurl-devel ```