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Clonality assesment in the TRACERx cohort using mutations detected by multiple panels

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Mutation_Clonality

Code to reproduce figures in manuscript "Accuracy of diagnostic mutation panels to test clonality of multiple lung tumors". The pipeline calculates the accuracy of several diagnostic mutation panels using public data from the TRACERx421 cohort. The user can add a custom mutation panel (in .bed format) to the manifest/ to test the accuracy. To run this pipeline Snakemake is required.

for easy installation you need (mini)conda.

Miniconda installation from folder where you want to install miniconda:

cd </path/to/files/dir/>
wget https://repo.continuum.io/miniconda/Miniconda3-latest-Linux-x86_64.sh
bash Miniconda3-latest-Linux-x86_64.sh

follow the instructions of the installation process, give the location where you want miniconda to be installed and answer YES to add miniconda to your path.

go to the directory where the analysis need to be performed

cd </path/to/analysis/dir>
git clone https://github.com/tgac-vumc/Mutation_clonality.git
cd Mutation_Clonality

install the snakemake environment,


conda env create --name snakemake --file envs/snakemake.yaml

activate the snakemake environment

source activate snakemake

Setup your files correctly:

  • Specify OncoKB access token in config.yaml

navigate to Mutation_Clonality directory and start snakemake.

snakemake --use-conda

Useful snakemake options

-j , --cores, --jobs : Use at most N cores in parallel (default: 1). If N is omitted, the limit is set to the number of available cores.
-n , --dryrun : Do not execute anything. but show rules which are planned to be performed.
-k , --keep-going : Go on with independent jobs if a job fails.
-f , --force : Force the execution of the selected target or the first rule regardless of already created output.
-U , --until : Runs the pipeline until it reaches the specified rules or files. Only runs jobs that are dependencies of the specified rule or files, does not run sibling DAGs.
-T , --timestamp : Add a timestamp to all logging output

for all options go to http://snakemake.readthedocs.io/en/stable/executable.html#all-options

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Clonality assesment in the TRACERx cohort using mutations detected by multiple panels

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