Installation and Usage

If you have paired-end umi-tagged fastqs, you can run the ACCESS fastq to bam workflow with the following steps

Step 1: Create a virtual environment.

Option (A) - if using cwltool

If you are using cwltool only, please proceed using python 3.9 as done below:

Here we can use either virtualenv or conda. Here we will use conda.

#python3-conda-virtualenv
conda create --name my_project python=3.9
conda activate my_project

Option (B) - recommended for Juno HPC cluster

If you are using toil, python 3 is required. Please install using Python 3.9 as done below:

Here we can use either virtualenv or conda. Here we will use conda.

#python3-conda-virtualenv
conda create --name my_project python=3.9
conda activate my_project

Once you execute the above command you will see your bash prompt something on this lines:

#bash-prompt-example
(my_project)[server]$

Step 2: Clone the repository

git-clone-with-submodule

git clone --recursive --branch 3.0.4 https://github.com/msk-access/chip-var.git

Note: Change 3.0.4 to the latest stable release of the pipeline

Step 3: Install requirements using pip

We have already specified the version of cwltool and other packages in the requirements.txt file. Please use this to install.

python-package-installation-using-pip

#python3
cd chip-var
pip3 install -r requirements.txt

Step 4: Check if you have singularity and nodejs for HPC

For HPC normally singularity is used for containers. Thus please make sure that is installed. For JUNO, you can do the following:

load-singularity-on-juno

module load singularity

We also need to make sure nodejs is installed, this can be installed using conda:

conda-install-nodejs

conda install -c conda-forge nodejs

Step 5: Generate an inputs file

Next, you must generate a proper input file in either json or yaml format.

For details on how to create this file, please follow this example (there is a minimal example of what needs to be filled in at the end of the page):

Input Description

It's also possible to create and fill in a "template" inputs file using this command:

$ cwltool --make-template chip-var.cwl > inputs.yaml

This may or may not work. We are not exactly sure why. But you can always use Rabix to generate the template input

Note: To see help for the inputs for cwl workflow you can use: toil-cwl-runner chip-var.cwl --help

Once we have successfully installed the requirements we can now run the workflow using cwltool/toil .

Step 6: Run the workflow

Using cwltool

Here we show how to use cwltool to run the workflow on a single machine, such as a laptop

Run the workflow with a given set of input using cwltool on single machine

cwltool-execution

cwltool chip-var.cwl inputs.yaml

Using toil-cwl-runner locally

Using toil-cwl-runner on JUNO

Usage

usage: chip-var.cwl [-h] --reference_fasta REFERENCE_FASTA --input_bam_case INPUT_BAM_CASE
                    [--bedfile BEDFILE] --sample_name SAMPLE_NAME
                    [--vardict_allele_frequency_threshold VARDICT_ALLELE_FREQUENCY_THRESHOLD]
                    [--retain_info RETAIN_INFO] --concat_output_name CONCAT_OUTPUT_NAME
                    [--vardict_output_vcf_name VARDICT_OUTPUT_VCF_NAME]
                    --input_cosmicprevalenceDB_vcf INPUT_COSMICPREVALENCEDB_VCF
                    --input_cosmicCountDB_vcf INPUT_COSMICCOUNTDB_VCF
                    [--snpsift_prevalOpName SNPSIFT_PREVALOPNAME]
                    [--snpsift_countOpName SNPSIFT_COUNTOPNAME] --input_complexity_bed
                    INPUT_COMPLEXITY_BED
                    [--output_complexity_filename OUTPUT_COMPLEXITY_FILENAME]
                    [--column_name_complexity COLUMN_NAME_COMPLEXITY] --oncoKbApiToken
                    ONCOKBAPITOKEN --opOncoKbMafName OPONCOKBMAFNAME
                    [--output_vcf2mafName OUTPUT_VCF2MAFNAME] --input_mappability_bed
                    INPUT_MAPPABILITY_BED
                    [--output_mappability_filename OUTPUT_MAPPABILITY_FILENAME]
                    [--column_name_mappability COLUMN_NAME_MAPPABILITY]
                    --input_47kchpd_tsv_file INPUT_47KCHPD_TSV_FILE --input_hotspot_tsv_file
                    INPUT_HOTSPOT_TSV_FILE --input_panmeloid_tsv_file INPUT_PANMELOID_TSV_FILE
                    [job_order]

chip-var

positional arguments:
  job_order             Job input json file

options:
  -h, --help            show this help message and exit
  --reference_fasta REFERENCE_FASTA
  --input_bam_case INPUT_BAM_CASE
  --bedfile BEDFILE
  --sample_name SAMPLE_NAME
  --vardict_allele_frequency_threshold VARDICT_ALLELE_FREQUENCY_THRESHOLD
  --retain_info RETAIN_INFO
  --concat_output_name CONCAT_OUTPUT_NAME
  --vardict_output_vcf_name VARDICT_OUTPUT_VCF_NAME
  --input_cosmicprevalenceDB_vcf INPUT_COSMICPREVALENCEDB_VCF
  --input_cosmicCountDB_vcf INPUT_COSMICCOUNTDB_VCF
  --snpsift_prevalOpName SNPSIFT_PREVALOPNAME
  --snpsift_countOpName SNPSIFT_COUNTOPNAME
  --input_complexity_bed INPUT_COMPLEXITY_BED
  --output_complexity_filename OUTPUT_COMPLEXITY_FILENAME
  --column_name_complexity COLUMN_NAME_COMPLEXITY
  --oncoKbApiToken ONCOKBAPITOKEN
  --opOncoKbMafName OPONCOKBMAFNAME
  --output_vcf2mafName OUTPUT_VCF2MAFNAME
  --input_mappability_bed INPUT_MAPPABILITY_BED
  --output_mappability_filename OUTPUT_MAPPABILITY_FILENAME
  --column_name_mappability COLUMN_NAME_MAPPABILITY
  --input_47kchpd_tsv_file INPUT_47KCHPD_TSV_FILE
  --input_hotspot_tsv_file INPUT_HOTSPOT_TSV_FILE
  --input_panmeloid_tsv_file INPUT_PANMELOID_TSV_FILE