The alleleCount package primarily exists to prevent code duplication between some other projects, specifically AscatNGS and Battenberg.
The project previously contained 2 equivalent implementations of allele counting code in perl and C for BAM/CRAM processing. As of v4 the perl code wraps the C implementation in order to preserve the ability to use alleleCounter for those still using the perl implementation whilst using the speed of the C implementation without loosing the additional features it provides.
- Loci files
- Docker, Singularity and Dockstore
- Creating a release
Assuming you have added the installation location to your path:
Accepts locai file as described below only and generates a tsv output of allele counts.
For parameters please see the command line help:
Please note use of the long form parameter names with values requires '=', e.g.
The perl version has additional options for alternative types of input/output.
Generic loci File
The base input for both tools is a simple tab formatted file of chromosome and 1-based positions, e.g.
If using the
--dense-snps mode (C only) please ensure the file is sorted via:
sort -k1,1 -n 2,2n loci_unsrt.tsv > losi_sorted.tsv
SNP6 loci file (perl only)
Output file is different.
Some of the code included in this package has dependencies:
And various utility perl modules.
These are all installed for you by running:
Please be aware that this expects basic C compilation libraries and tools to be available.
Docker, Singularity and Dockstore
There is a pre-built image containing this codebase on quay.io.
- dockstore-cgpwgs: Contains additional tools for WGS analysis.
This was primarily designed for use with dockstore.org but can be used as normal containers.
The docker images are know to work correctly after import into a singularity image.
Creating a release
- Commit/push all relevant changes.
- Pull a clean version of the repo and use this for the following steps.
Cutting the release
lib/Sanger/CGP/AlleleCount.pmto the correct version.
CHANGES.mdto show major items.
- Check all tests and coverage reports are acceptable.
- Commit the updated docs tree and updated module/version.
- Push commits.
- Use the GitHub tools to draft a release.
Copyright (c) 2014-2020 Genome Research Ltd. Author: CASM/Cancer IT <email@example.com> This file is part of alleleCount. alleleCount 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’."