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@@ -7,11 +7,11 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
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Note that CoMorMent containers are organized using several GitHub repositories:
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*<https://github.com/comorment/containers> - .sif files, public reference data, documentation, common scripts
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*<https://github.com/comorment/reference> - private reference data with access restricted to CoMorMent collaborator
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*[https://github.com/comorment/containers](https://github.com/comorment/containers) - .sif files, public reference data, documentation, common scripts
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*[https://github.com/comorment/reference](https://github.com/comorment/reference) - private reference data with access restricted to CoMorMent collaborator
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All of the above repositories are covered by this CHANGELOG. They will have the same version tags on github.
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In addition, we have repositories containing specific tools, e.g. <https://github.com/comorment/HDL>,
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In addition, we have repositories containing specific tools, e.g. [https://github.com/comorment/HDL](https://github.com/comorment/HDL),
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which will be covered by their own CHANGELOG.md file.
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To identify the version of a .sif file, run ``md5sum <container>.sif`` command and find the MD5 checksum in the list below.
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* Removals goes here
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### Misc.
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### Misc
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* Miscellaneous goes here
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## [1.3.2] - 2023-06-12
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### Fixed
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* Fixed misc. issues with cross references in online documentation
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## [1.3.1] - 2023-06-07
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### Added
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### Fixed
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* Fixed issue with character encoding in sumstats files, in case chromosome column name is uppercase.
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* Fixed issue with character encoding in sumstats files, in case chromosome column name is uppercase.
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## [1.3.0] - 2023-05-19
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* Added ``RELEASES.md`` file explaining steps needed to make releases.
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* Added ``PRSice_linux`` to ``r.sif``
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* Added tests for ``gwas.py``
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* Added package ``GWASTools`` to ``r.sif``.
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* Added package ``GWASTools`` to ``r.sif``.
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* Added confidence intervals to qq plots created by ``gwas.py`` using ``GWASTools`` R package.
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* Added status badges and citation.cff file
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* Added status badges and citation.cff file
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### Updated
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* Updated file and folder layout, fixing minor documentation issues. Moving from ``m2r2`` to ``Myst-parser`` for Sphinx-generated online docs.
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Main changes since release version [1.0.0](https://github.com/comorment/containers/releases/tag/v1.0.0):
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### Added
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* add option to append ``usecases/LDpred2/ldpred.R`` score output to an existing file
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* add script ``usecases/LDpred2/complementSumstats.R`` to append chromosome and position to summary statistics
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* add polygenic score output tests for ``usecases/LDpred2/ldpred.R``
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* add ``usecases/LDpred2/imputeGenotypes.R`` for imputing genotypes using R-package bigSNPR
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* add ``usecases/LDpred2/calculateLD.R`` for calculation LD using R-package bigSNPR.
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* add autobuilt online documentation from repository sources at https://comorment-containers.readthedocs.io/en/latest/
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* add autobuilt online documentation from repository sources at <https://comorment-containers.readthedocs.io/en/latest/>
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* add R libraries for LDpred2 analysis to `r.sif` + corresponding example.
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* add tests for ``metal`` and ``qctool`` in ``gwas.sif`` build
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* add basic GitHub actions from https://github.com/precimed/container_template.git
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* add basic GitHub actions from <https://github.com/precimed/container_template.git>
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* add ``FaST-LMM`` (version 0.6.3) to future ``python3.sif``, and corresponding test
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* add ``shapeit4.2`` binary (shapeit4 v.4.2.2) and HTSlib (1.11) to future ``gwas.sif`` builds, and corresponding test
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* added additional tests for software in ``gwas.sif``, ``python3.sif`` builds
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* add versions identifiers for all explicitly installed software across ``hello.sif``, ``gwas.sif``, ``python3.sif``, ``r.sif``, listed in [docker/README.md](https://github.com/comorment/containers/docker/README.md)
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* add versions identifiers for all explicitly installed software across ``hello.sif``, ``gwas.sif``, ``python3.sif``, ``r.sif``, listed in [docker/README.md](./docker/README.md)
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* replaced Ubuntu 18.04 with 20.04 (LTS) as base image for ``hello.sif``, ``gwas.sif``, ``python3.sif``
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* replaced ``src/scripts/install_miniconda3.sh`` by ``scr/scripts/install_mambaforge.sh`` which is now used in future ``python3.sif`` builds
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* replaced ``src/scripts/install_miniconda3.sh`` by ``scr/scripts/install_mambaforge.sh`` which is now used in future ``python3.sif`` builds
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* add tests for bgenix and Minimac4 software in ``gwas.sif``, removing build-time dependencies for these from container
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* add basic test that KING software runs in ``gwas.sif``
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* add Dockerfiles and install scripts for `gwas.sif`, `hello.sif`, `python3.sif`, `r.sif`, `saige.sif` from [gwas](https://github.com/comorment/gwas).
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* add Dockerfiles and install scripts for `gwas.sif`, `hello.sif`, `python3.sif`, `r.sif`, `saige.sif` from [gwas](https://github.com/comorment/gwas).
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* add CHANGELOG.md (this file)
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* add ``gwas.py --analysis saige`` option, allowing to run SAIGE analysis
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* add ``gwas.py --analysis figures`` option, using R qqman for QQ and manhattan plots
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### Updated
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* rebuilt the following containers following version pinning in Dockerfiles, install scripts, etc. (see above additions):
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* ``gwas.py --analysis loci manh qq`` options as removed (fix #22)
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* ``--bed-fit``, ``--bed-test``, ``--bgen-fit``, ``--bgen-test`` options of ``gwas.py`` are removed; use new options ``--geno-fit-file`` and ``--geno-file`` instead
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* remove ``regenie.sif`` and ``regenie3.sif``, because regenie software is also included in ``gwas.sif``
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* remove MiXeR package from ``python3.sif`` container, because MiXeR is now available as a separate container (<https://github.com/comorment/mixer>). This is also where you will find MiXeR's use-cases.
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* MAGMA, LAVA and ldblock software is moved to https://github.com/comorment/magma.
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* remove MiXeR package from ``python3.sif`` container, because MiXeR is now available as a separate container ([https://github.com/comorment/mixer](https://github.com/comorment/mixer)). This is also where you will find MiXeR's use-cases.
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* MAGMA, LAVA and ldblock software is moved to <https://github.com/comorment/magma>.
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MAGMA reference files are also moved to this repository.
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* enigma-cnv.sif and enigma-cnv.sif is moved to https://github.com/comorment/iPsychCNV
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enigma-cnv.sif is also available here: in https://github.com/ENIGMA-git/ENIGMA-CNV/tree/main/CNVCalling/containers
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* tryggve_query.sif is moved to https://github.com/comorment/Tryggve_psych
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* ``matlabruntime.sif`` container is moved to https://github.com/comorment/matlabruntime.
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* enigma-cnv.sif and enigma-cnv.sif is moved to <https://github.com/comorment/iPsychCNV>
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enigma-cnv.sif is also available here: in <https://github.com/ENIGMA-git/ENIGMA-CNV/tree/main/CNVCalling/containers>
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* tryggve_query.sif is moved to <https://github.com/comorment/Tryggve_psych>
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* ``matlabruntime.sif`` container is moved to <https://github.com/comorment/matlabruntime>.
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pleioFDR reference files are also moved to this repository.
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Our continuous integration (CI) testing runs [a number of checks](https://github.com/comorment/containers/actions) for each pull request on [GitHub Actions](https://github.com/features/actions).
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You can run most of these tests locally, which is something you should do *before* opening a PR to help speed up the review process and make it easier for us.
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And finally, please update the [CHANGELOG](https://github.com/comorment/containers/blob/main/CHANGELOG.md) with notes on your contribution in the "Unreleased" section at the top.
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And finally, please update the [CHANGELOG](./CHANGELOG.md) with notes on your contribution in the "Unreleased" section at the top.
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After all of the above checks have passed, you can now open [a new GitHub pull request](https://github.com/comorment/containers/pulls).
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Make sure you have a clear description of the problem and the solution, and include a link to relevant issues.
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Most of these tools are packaged into singularity containers (<https://sylabs.io/singularity/>) and shared in the [singularity](https://github.com/comorment/containers/tree/main/singularity) folder of this repository. You can download individual containers using github's ``Download`` button, or clone the entire repository from command line as described in the [Getting started](#getting-started) section below.
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Most of the tools require additional [reference](reference) data, provided in the [reference](https://github.com/comorment/containers/tree/main/reference) folder of this repository.
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Many of the tools require additional reference data provided in the [reference](https://github.com/comorment/containers/tree/main/reference) folder of this repository.
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Certain reference data can not be made publicly available, in which case we provide access instructions in a separate GitHub repository:
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<https://github.com/comorment/reference>. This repository is private - please approach your contact within CoMorMent project to enable your access.
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Description of containers and usage instructions are provided in the [docs](docs) folder.
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Description of containers and usage instructions are provided in the [docs](https://github.com/comorment/containers/tree/main/docs) folder.
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More extensive use cases of containers, focusing on real data analysis, are provided in the [usecases](usecases) folder.
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More extensive use cases of containers, focusing on real data analysis, are provided in the [usecases](https://github.com/comorment/containers/tree/main/usecases) folder.
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The history of changes is available in the [CHANGELOG.md](https://github.com/comorment/containers/blob/main/CHANGELOG.md) file.
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The history of changes is available in the [CHANGELOG.md](./CHANGELOG.md) file.
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Additional tools are available in separate repositories:
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*<https://github.com/comorment/ldpred2_ref> - reference files for LDpred2. The tool itself is included in ``r.sif`` ([more info](scripts/pgs)).
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*<https://github.com/comorment/ldpred2_ref> - reference files for LDpred2. The tool itself is included in ``r.sif`` ([more info](https://github.com/comorment/containers/tree/main/scripts/pgs)).
Once you have a clone of this repository on your system, you may proceed with [docs/singularity/hello.md](docs/singularity/hello.md) example.
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Take a look at other README files in the [docs/singularity](docs/singularity) folder, as well as detailed use cases in [usecases](usecases).
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Once you have a clone of this repository on your system, you may proceed with [docs/singularity/hello.md](./docs/singularity/hello.md) example.
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Take a look at the [README](./docs/singularity/README.md) file in the [docs/singularity](https://github.com/comorment/containers/tree/main/docs/singularity) folder, as well as detailed use cases in [usecases](https://github.com/comorment/containers/tree/main/usecases).
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To simplify instructions throughout this repository we use certain variables (it's a good idea to include them in your ``.bashrc`` or similar):
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## Source files
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The source files for configuring and building the container files provided here are found in the [docker](https://github.com/comorment/containers/tree/main/docker) directory.
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See the corresponding [README](docker) file therein for details.
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See the corresponding [README](./docker/README.md) file therein for details.
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If you would like to contribute to developing these containers, please see the [CONTRIBUTING](./../CONTRIBUTING.md) file.
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For a tutorial on GWAS with synthetic data, see [docs/usecases/gwas_demo.md](./../docs/usecases/gwas_demo.md).
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For a tutorial on GWAS with synthetic data, see [usecases/gwas_demo.md](./../usecases/gwas_demo.md).
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### Prerequisites (to running tutorials)
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NOTE: This is out of date. Confer [docs/usecases](./../docs/usecases).
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NOTE: This is out of date. Confer [usecases/README.md](./../usecases/README.md).
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* download container files shared on the [Google Drive](https://drive.google.com/drive/folders/1mfxZJ-7A-4lDlCkarUCxEf2hBIxQGO69?usp=sharing).
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* download ``comorment_ref.tar.gz`` file from the above Google Drive folder, extract it with ``tar -xzvf comorment_ref.tar.gz`` command,
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## Description of available containers
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The detailed description of the available container [files](./../singularity) provided in this repository are found [here](./../docs/singularity).
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The detailed description of the available container [files](https://github.com/comorment/containers/tree/main/singularity) provided in this repository are found [here](./../docs/singularity/README.md).
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## Singularity
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Brief descriptions of the available software container builds are available at [singularity](singularity).
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Brief descriptions of the available software container builds are available at [singularity](./singularity/README.md).
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## Specifications
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Specifications of the input data format for GWAS anslysis, recommended in CoMorMent projects are documentat at [specifications](specifications)
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Specifications of the input data format for GWAS analysis, recommended in CoMorMent projects are documented at [specifications](./specifications/README.md)
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# ``gwas.sif`` container
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The ``gwas.sif`` container file has multiple tools related to imputation and GWAS analysis, as summarized in this [table](./../../docker#software-versions).
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The ``gwas.sif`` container file has multiple tools related to imputation and GWAS analysis, as summarized in this [table](./../../docker/README.md#software-versions).
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Note that some specific tools (e.g. ``bolt``) are added to the path directly from their ``/tools`` folder (e.g. ``/tools/bolt``) due to hard-linked dependencies.
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Either way, all tools can be invoked by their name, as listed above. For example:
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## TSD-specific instructions
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The official documentation fro singularity on TSD is available [here](https://www.uio.no/english/services/it/research/sensitive-data/use-tsd/hpc/software/singularity.html). Here are more important notes about singularity on TSD:
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The official documentation for singularity on TSD is available [here](https://www.uio.no/english/services/it/research/sensitive-data/use-tsd/hpc/software/singularity.html). Here are more important notes about singularity on TSD:
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*``module load singularity/2.6.1`` is going to be deprecated soon; instead, there will be a local installation of singularity on each Colossus node
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* Singularity might be unavailable on some of the interactive nodes. For example, in ``p33`` project it is recommended to run singularity on ``p33-appn-norment01`` node. You may also find it in ``p33-submit`` nodes.
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* You may want to run ``module purge``, to make sure you use locally installed singularity. It is good idea to run ``which singularity`` to validate this.
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*``L95``, ``U95`` - lower and upper 95% confidence interval of the ``BETA``.
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*``P`` - p-value
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For ``SNP``, ``CHR``, ``BP``, ``A1`` and ``A2`` columns the [gwas.py](gwas.py) script will simply copy over the information from the genetic file, i.e. from ``.bgen`` or ``.bim`` files. This means that ``SNP`` is likely to be dbSNP rs#, or some other form of identifyied such as ``CHR:BP:A1:A2``.
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For ``SNP``, ``CHR``, ``BP``, ``A1`` and ``A2`` columns the [scripts/gwas/gwas.py](https://github.com/comorment/containers/tree/main/scripts/gwas/gwas.py) script will simply copy over the information from the genetic file, i.e. from ``.bgen`` or ``.bim`` files. This means that ``SNP`` is likely to be dbSNP rs#, or some other form of identifyied such as ``CHR:BP:A1:A2``.
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For ``CHR`` and ``BP``, there we don't enforce a specific genomic build - it all depends on what build was used by the genotype data.
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Finally, ``A1`` and ``A2`` are not guarantied to be minor or major alleles, but ``A1`` will be used as an effect allele for signed summary statistics (i.e. ``Z`` and ``BETA`` columns).
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