diff --git a/DOCUMENTATION.md b/DOCUMENTATION.md index ca487be..214b49c 100644 --- a/DOCUMENTATION.md +++ b/DOCUMENTATION.md @@ -28,6 +28,8 @@ ADMIRE was developed as an open source, semi-automatic analysis pipeline and vis - Supports arbitrary number of samples and sample groups - Differential methylation analysis on pre-calculated and individual genomic regions - Provides ready-to-plug-in files for genome browsers (like IGV) +- Provides publication-ready figures for the most differentially methylated regions +- Performs gene set enrichment analysis on predefined and individual gene sets ### Workflow @@ -60,6 +62,8 @@ Parameter | Explanation -l | In case of quantile normalization, label samples as bad if their median signals are below a given value (10.5) -m | In case of quantile normalization, remove bad samples -q | Q-value cutoff for multiple testing correction (0.05) +-i | Render advanced plots for the best i regions (20) +-g | Gene set file for enrichment analysis, use multiple -g parameters to calculate enrichment over many gene sets -o | tar-gz compress output into file given -h | shows this help message -v | shows version information @@ -107,6 +111,10 @@ ADMIRE is also able to work on raw methylation values when called with `admire - In case of functional normalization, an additional noob background correction step can be skipped with `admire -b -n fn`. In case of functional or noob normalization, a dye correction step can be skipped with `ADMIRE -d -n fn` or `admire -d -n noob`. +#### Gene set enrichment analysis + +Gene sets can be given with `admire -g geneset1 -g geneset2 ...`. Gene set files should be text files with one gene symbol per line. The filename is used to name the gene set. + #### Other available parameters ADMIRE features the following other parameters: @@ -126,6 +134,7 @@ This subdirectory contains a csv file for each combination of sample group compa #### Files in the visualization subdirectory This subdirectory contains files for visualization with IGV. General files, like the genomic location of all Illumina probes, as well as the genomics regions used during analysis, are located in the `annotation-tracks` subfolder. Data specific files are located in the `data-tracks` folder. Here, you can find information per sample-group comparison (e.g. case-vs-control) information on significantly altered probe methylation (`control-case.igv`), as well as significantly altered genomic regions in [BED format](http://genome.ucsc.edu/FAQ/FAQformat.html#format1). +Additionally, additional images are stored in region-specific subdirectories. #### Files in the normalized subdirectory @@ -135,6 +144,10 @@ When not using inside the galaxy environment, the `normalized` subdirectory cont When not using inside the galaxy environment, the `results` subdirectory contains intermediate result files, like the output from statistical testing (`control-case.pvals.bed`) or results from combining p-values (`comb-p` subdirectory). +#### Files in the geneset-enrichment subdirectory + +tba + ### Examples #### Detection of differentially methylated promoters in permanent atrial fibrillation