diff --git a/README.md b/README.md index 9098ed7..3680302 100644 --- a/README.md +++ b/README.md @@ -8,10 +8,9 @@ ### Overview - +`pipeline-structural-variation` is a pipeline for calling structural variations for whole genome sequencing Oxford Nanopore data. It accepts FASTQ files and outputs aligned reads and filtered SV calls. ### Features - The pipeline performs the following steps: - Maps reads using minimap2 - Produces QC report using NanoPlot @@ -26,11 +25,12 @@ The pipeline performs the following steps: ### Dependencies To run the pipeline the following software packages have to be installed on your system: - - [miniconda3](https://conda.io/miniconda.html) - install it according to the [instructions](https://conda.io/docs/user-guide/install/index.html). -- [snakemake](https://anaconda.org/bioconda/snakemake) install using `conda`. -- The rest of the dependencies are automatically installed using the `conda` feature of `snakemake`. - +- [snakemake](https://anaconda.org/bioconda/snakemake) install using `conda` as follows: +```bash +$ conda install -y snakemake +``` +Alternatively, you can run the pipeline using [docker](https://www.docker.com/). In this case only a working docker installation is required (see alternative installation methods). ### Installation After installing miniconda3 and snakemake (see dependencies), install the pipeline as follows: @@ -283,6 +283,8 @@ If you use this pipeline please cite: - Sedlazeck, F. J., Rescheneder, P., Smolka, M., Fang, H., Nattestad, M., von Haeseler, A., & Schatz, M. C. (2018). Accurate detection of complex structural variations using single-molecule sequencing. Nature Methods, 15(6), 461–468. https://doi.org/10.1038/s41592-018-0001-7 - Pedersen, B. S., & Quinlan, A. R. (2018). Mosdepth: quick coverage calculation for genomes and exomes. Bioinformatics, 34(5), 867–868. https://doi.org/10.1093/bioinformatics/btx699 +When using the QC report please also cite: +- De Coster, W., D’Hert, S., Schultz, D. T., Cruts, M., & Van Broeckhoven, C. (2018). NanoPack: visualizing and processing long-read sequencing data. Bioinformatics, 34(15), 2666–2669. https://doi.org/10.1093/bioinformatics/bty149 ##### For additional information on SV and SV calling please see: