cgpPindel

cgpPindel contains the Cancer Genome Projects workflow for Pindel.

| Master | Develop | | --------------------------------------------- | ----------------------------------------------- | | | |

The is a lightly modified version of pindel v2.0 with CGP specific processing for:

• Input file generation
• Conversion from pindel text output to:
  • tumour and normal BAM alignment files
  • VCF
  • Application of VCF filters.

Details of execution and referencing can be found in the wiki

Contents:

• Docker, Singularity and Dockstore
• Dependencies/Install
• Nextflow
  • Setup personal nextflow
  • Profiles
  • Workflow entry points
  • pindel_pl
  • np_generation
  • Sub-workflows
• Developers
  • Updating licence headers
  • Code changes
  • Testing
  • Regression CI
  • Public CI
  • Cutting the release
• LICENCE

Docker, Singularity and Dockstore

There are pre-built images containing this codebase on quay.io. When pulling an image you must specify the version there is no latest.

• cgpPindel quay.io: Contained within this repository
  • Smallest build required to use cgpPindel
  • Not linked to Dockstore (yet)
  • Updated most frequently
• dockstore-cgpwxs: Contains tools specific to WXS analysis.
• dockstore-cgpwgs: Contains additional tools for WGS analysis.

These were primarily designed for use with dockstore.org but can be used as normal containers.

The docker images are known to work correctly after import into a singularity image.

Dependencies/Install

When doing a native install please install the following first:

• PCAP-core v2.0+
• cgpVcf v2.0+

Please see these for any child dependencies.

Once complete please run:

./setup.sh /some/install/location

Please use setup.sh to install any other dependencies. Setting the environment variable CGP_PERLLIBS allows you to to append to PERL5LIB during install. Without this all dependancies are installed into the target area.

Please be aware that this expects basic C compilation libraries and tools to be available.

Nextflow

Initial Nextflow bindings for cgpPindel.

Setup personal nextflow

If you don't have a central nextflow install this will get you running with a limited environment:

```bash

seems silly but a python venv is a nice way to handle this during dev

python3 -m venv .venv source .venv/bin/activate

compute head nodes may need you to limit Java accessing all memory

export NXF_OPTS="-Xms500M -Xmx2G" curl get.nextflow.io | bash mv nextflow .venv/bin/. ```

If you have any issues installing refer to Nextflow documentation, not the issue tracker for this repo.

Profiles

Refer to nextflow for an explanation of profiles. The following are available:

• Job management
  • local
  • spawned jobs use execution host
  • lsf
  • spawned jobs are submitted via bsub
• Execution method
  • <none>
  • Expects to find programs in PATH
  • singularity
  • Provide image file via -with-singularity [singularity image]
  • docker
  • Provide image via -with-docker [docker image]

For example to run on a LSF farm with singularity the profile would be:

... -profile lsf,singularity ...

While native install with lsf would be:

... -profile lsf ...

Workflow entry points

There are 2 top level entry points:

``` ... -entry pindel_pl ...

or

... -entry np_generation ... ```

pindel_pl

Executes a tumour/normal paired analysis.

CPU and memory are controlled via nextflow.config, configs are additive, see nextflow documentation.

For the workflow options run:

nextflow -entry pindel_pl --help

np_generation

Executes pindel with a "dummy" tumour for a file listing of input BAMs.

CPU and memory are controlled via nextflow.config, configs are additive, see nextflow documentation.

For the workflow options run:

nextflow -entry np_generation --help

Sub-workflows

The nextflow code has been implemented with DSL2 so that the workflows can be composed into larger components.

The items above can be addressed for this purpose via:

• subwf_pindel_pl
• subwf_np_gen

Developers

Please use pre-commit on this project. You can install to $HOME/bin via:

bash curl https://pre-commit.com/install-local.py | python -

In you checkout please run:

bash pre-commit install

Updating licence headers

Please use skywalking-eyes.

Expected workflow:

```bash

recent build, change to apache/skywalking-eyes:0.2.0 once released

export DOCKER_IMG=ghcr.io/apache/skywalking-eyes/license-eye ```

1. Check state before modifying .licenserc.yaml:
   • docker run -it --rm -v $(pwd):/github/workspace $DOCKER_IMG header check
   • You should get some 'valid' here, those without a header as 'invalid'
2. Modify .licenserc.yaml
3. Apply the changes:
   • docker run -it --rm -v $(pwd):/github/workspace $DOCKER_IMG header fix
4. Add/commit changes

This is executed in the CI pipeline.

DO NOT edit the header in the files, please modify the date component of content in .licenserc.yaml. The only exception being:

• README.md

If you need to make more extensive changes to the license carefully test the pattern is functional.

Code changes

This project is maintained using the HubFlow methodology.

1. Make appropriate changes
2. Update perl/lib/Sanger/CGP/Pindel.pm to the correct version (adding rc/beta to end if applicable).
3. Update CHANGES.md to show major items.
4. Commit the updated docs and updated module/version.
5. Push commits.

Testing

Regression CI

An internal CI system is used to validate each release using real, large scale datasets.

Public CI

Circleci is used to:

• Build Docker image (unit tests are part of build)
• Validate expected tools exist
• For tags only: push image to quay.io

CI only runs for:

• Branches with pull-requests
• Default branch (dev)
• Tags

Cutting the release

Internal regression CI processes must be completed prior to this.

1. Check state on Circleci
2. Generate the release (add notes to GitHub)
3. Confirm that image has been pushed to quay.io

LICENCE

``` Copyright (c) 2014-2021 Genome Research Ltd.

Author: CASM/Cancer IT cgphelp@sanger.ac.uk

This file is part of cgpPindel.

cgpPindel is free software: you can redistribute it and/or modify it under the terms of the GNU Affero General Public License as published by the Free Software Foundation; either version 3 of the License, or (at your option) any later version.

This program is distributed in the hope that it will be useful, but WITHOUT ANY WARRANTY; without even the implied warranty of MERCHANTABILITY or FITNESS FOR A PARTICULAR PURPOSE. See the GNU Affero General Public License for more details.

You should have received a copy of the GNU Affero General Public License along with this program. If not, see http://www.gnu.org/licenses/.

1. The usage of a range of years within a copyright statement contained within this distribution should be interpreted as being equivalent to a list of years including the first and last year specified and all consecutive years between them. For example, a copyright statement that reads ‘Copyright (c) 2005, 2007- 2009, 2011-2012’ should be interpreted as being identical to a statement that reads ‘Copyright (c) 2005, 2007, 2008, 2009, 2011, 2012’ and a copyright statement that reads ‘Copyright (c) 2005-2012’ should be interpreted as being identical to a statement that reads ‘Copyright (c) 2005, 2006, 2007, 2008, 2009, 2010, 2011, 2012’." ```