CAW is a complete open source pipeline to detect somatic variants from WGS data developed at the National Genomics Infastructure at SciLifeLab Stockholm, Sweden and National Bioinformatics Infastructure Sweden at SciLifeLab.
The pipeline uses Nextflow, a bioinformatics domain specific language for workflow building and Singularity, a container technology specific for high-performance computing.
This pipeline is primarily used with cluster on the Swedish UPPMAX systems. However, the pipeline should be able to run on any system that supports Nextflow. The pipeline comes with some configuration for different systems. See the documentation for more information.
Caw is based on GATK best practices to align, realign and recalibrate short-read data in parallel for both normal and tumor sample. After these preprocessing steps, several somatic variant callers scan the resulting BAM files: MuTect1, MuTect2, Freebayes and Strelka are used to find somatic SNVs and small indels, also GATK HaplotyeCaller for both the normal and the tumor sample. For structural variants we use Manta. Furthermore, we are applying ASCAT to estimate sample heterogeneity, ploidy and CNVs.
The pipeline can begin the analysis either from raw FASTQ files, only from the realignment step, or directly with any subset of variant callers using recalibrated BAM files. At the end of the analysis the resulting VCF files are merged to facilitate further downstream processing, though results from each caller are also retained. The flow is capable of accommodating additional variant calling software or CNV callers. It is also prepared to process normal, tumor and several relapse samples.
Besides variant calls, the workflow provides quality controls presented by MultiQC.
The containers directory contains building rules for containers for all CAW processes.
This pipeline is listed on Elixir - Tools and Data Services Registry.
The CAW pipeline comes with documentation about the pipeline, found in the doc/ directory:
- Installation documentation
- Installation documentation specific for
milou - Installation documentation specific for
bianca - Tests documentation
- Reference files documentation
- Configuration and profiles documentation
- Intervals documentation
- Running the pipeline
- Examples
- TSV file documentation
- Processes documentation
- Documentation about containers
- Documentation about building
- More information about ASCAT
- Folder structure
- Contributions guidelines For further information/help, don't hesitate to get in touch on Gitter or contact us: [email protected], [email protected]
- Sebastian DiLorenzo
- Jesper Eisfeldt
- Maxime Garcia
- Szilveszter Juhos
- Max Käller
- Malin Larsson
- Marcel Martin
- Björn Nystedt
- Pall Olason
- Pelin Sahlén
