From e08b455c4d46900c3394b41f848d737279c82c2b Mon Sep 17 00:00:00 2001 From: Sander Bollen <sander@sndrtj.eu> Date: Thu, 30 Nov 2017 17:16:03 +0100 Subject: [PATCH] confguration values descriptions --- README.md | 40 ++++++++++++++++++++++++++++++++++++++++ 1 file changed, 40 insertions(+) diff --git a/README.md b/README.md index 5d5cca3..0316b36 100644 --- a/README.md +++ b/README.md @@ -90,6 +90,46 @@ The following reference files **may** be provided: 1. Any number of BED files to calculate coverage on. + +# How to run + +After installing and activating the main conda environment, as described above, +the pipeline can be started with: + +```bash +snakemake -S Snakefile \ +--use-conda \ +-T \ +--config <CONFIGURATION VALUES> +``` + +This would start all jobs locally. Obviously this is not what one would +regularly do for a normal pipeline run. How to submit jobs on a cluster is +described later. Let's first move on to the necessary configuration values. + +## Configuration values + +The following configuration values are **required**: + +| configuration | description | +| ------------- | ----------- | +| `OUT_DIR` | Absolute path to output directory | +| `REFERENCE` | Absolute path to fasta file | +| `SAMPLE_CONFIG` | Path to config file as descrbed above | +| `GATK` | Path to GATK jar. **Must** be version 3.7 | +| `DBSNP` | Path to dbSNP VCF | +| `ONETHOUSAND` | Path to 1000Genomes VCF | +| `HAPMAP` | Path to HapMap VCF | + +The following configuration options are **optional**: + +| configuration | description | +| ------------- | ----------- | +| `BED` | Comma-separate list of paths to BED files of interest | +| `FEMALE_THRESHOLD` | Float between 0 and 1 that signifies the threshold of the ratio between coverage on X/overall coverage that 'calls' a sample as female. Default = 0.6 | +| `FASTQ_COUNT` | Path to `fastq-count` executable | +| `MAX_BASES` | Maximum allowed number of bases per sample before subsampling | + # Graph Below you can see the rulegraph of the pipeline. The main variant calling flow -- GitLab