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Update development version with master version #13

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May 22, 2024
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b09b501
Merge pull request #9 from swvanderlaan/dev
swvanderlaan Dec 7, 2020
8f5351f
Update README.md
swvanderlaan Dec 7, 2020
400b292
Update README.md
swvanderlaan Dec 7, 2020
185e6ae
removed references to SGE
swvanderlaan Dec 8, 2020
f9f2efc
updates and edits
swvanderlaan Feb 11, 2021
0ad8d6b
edits
swvanderlaan Oct 26, 2021
8b901dc
edits
swvanderlaan Oct 26, 2021
b5af348
edits
swvanderlaan Oct 26, 2021
70349a3
edits to date and authors
swvanderlaan Oct 26, 2021
ceeb9d0
edits
swvanderlaan Oct 26, 2021
95fa040
edits
swvanderlaan Oct 26, 2021
d9fb416
bug fix on the awk-statement
swvanderlaan Oct 26, 2021
d97b4d5
edits to the reference for snptest, new version 2.5.6 was added
swvanderlaan Nov 30, 2021
4cb60a4
edits
swvanderlaan Apr 14, 2022
602550c
fix the issue where variants with INFO=1 are filtered out
swvanderlaan Oct 30, 2022
e183d9d
Merge branch 'master' of github.com:swvanderlaan/GWASToolKit
swvanderlaan Oct 30, 2022
cd5445e
fix references to software in configuration file
swvanderlaan Sep 12, 2023
2a64c13
remove exclusion list variable, cleaned up configuration file
swvanderlaan Sep 12, 2023
6ad4bb1
updates
swvanderlaan Nov 1, 2023
ec595a1
only output PNGs for the plotting
swvanderlaan Nov 29, 2023
c0eedb1
updates to do list
swvanderlaan Nov 29, 2023
3f71e37
small fix
swvanderlaan Nov 29, 2023
e3a2d03
added script to run alternative models (interaction, genotypic, domin…
swvanderlaan Apr 12, 2024
759629e
added a few fixes to the per-gene analysis
swvanderlaan Apr 18, 2024
fee09a7
added liftover script to convert a given list of coordinates between …
swvanderlaan Apr 19, 2024
022a7ad
fixed links in configuration file
swvanderlaan May 22, 2024
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1 change: 1 addition & 0 deletions .gitignore
Original file line number Diff line number Diff line change
@@ -1,3 +1,4 @@
RESOURCES
~$20161102_AEGS_available_phenotypes_covariates.xlsx
.DS_Store
.DS_Store
29 changes: 18 additions & 11 deletions README.md
Original file line number Diff line number Diff line change
Expand Up @@ -2,9 +2,9 @@ GWASToolKit
============
[![DOI](https://zenodo.org/badge/55601542.svg)](https://zenodo.org/badge/latestdoi/55601542)

This repository contains various scripts in Perl, BASH, and Python scripts to use in genome-wide association studies, single variant analyses, regional analyses, and gene-centered analyses. The genotypes are expected to be imputed using [IMPUTE2](http://mathgen.stats.ox.ac.uk/impute/impute_v2.html) and the core of the collection of scripts makes use of [SNPTEST v2.5](https://mathgen.stats.ox.ac.uk/genetics_software/snptest/snptest.html).
This repository contains various scripts in Perl, BASH, and Python scripts to use in genome-wide association studies, single variant analyses, regional analyses, and gene-centered analyses. The genotypes are expected to be imputed using [IMPUTE2](http://mathgen.stats.ox.ac.uk/impute/impute_v2.html) and the core of the collection of scripts makes use of [SNPTEST v2.5.4+](https://mathgen.stats.ox.ac.uk/genetics_software/snptest/snptest.html)and [QCTOOL v2.0.2+](https://www.well.ox.ac.uk/~gav/qctool/#overview).

All scripts are annotated for debugging purposes - and future reference. The scripts will work within the context of a certain Linux environment (in this case a CentOS7 system on a SUN Grid Engine background). As such we have tested GWASToolKit on CentOS6.6, CentOS7, and OS X El Capitan (version 10.11.[x]).
All scripts are annotated for debugging purposes - and future reference. The scripts will work within the context of a certain Linux environment (in this case a _CentOS7_ system with _Simple Linux Utility for Resource Management [SLURM]_). As such we have tested GWASToolKit on CentOS6.6, CentOS7, and macOS since El Capitan (version 10.11.[x]).


--------------
Expand Down Expand Up @@ -40,7 +40,9 @@ By typing...
bash gwastoolkit.analyzer.sh $(pwd)/gwastoolkit.conf
```

...the user will control what analysis will be done. Simply typing `bash gwastoolkit.analyzer.sh` will produce an extensive error-message explaining what arguments are expected. Note: it is absolutely pivotal to use `$(pwd)` to indicate the whole path to the configuration file, because this is used by the script(s) for the creation of directories _etc._
...the user will control what analysis will be done. Simply typing `bash gwastoolkit.analyzer.sh` will produce an extensive error-message explaining what arguments are expected.

> Note: it is absolutely pivotal to use `$(pwd)` to indicate the whole path to the configuration file, because this is used by the script(s) for the creation of directories _etc._

--------------

Expand Down Expand Up @@ -68,19 +70,24 @@ The user must supply a variant list with chromosome and base pair position per v

--------------

#### TO DO
There are definitely improvements needed. Below of things I'd like to add or edit in the (near) future.
#### MoSCoW (must, should, could, would) - TO DO
There are definitely improvements needed. Below of things I'd like to add or edit in the (near) future (also refer to Issues-tab).

- edit the variant selection to work with non-rsID variants
- add proper `--help` flag
- clean up codes further, especially with respect to the various error-flags
- add in checks of the environment, similar to `slideToolkit` scripts
- add in some code to produce a simple report
- [x] ~~edit the variant selection to work with non-rsID variants~~ this now works based on `chromosome-basepair` position.
- [.] add proper `--help` flag -- SHOULD
- [.] clean up codes further, especially with respect to the various error-flags -- COULD
- [.] add in checks of the environment, similar to `slideToolKit` scripts -- COULD
- [.] add in some code to produce a simple report -- SHOULD
- [.] create wiki -- MUST
- [x] ~~update to SLURM~~ this was update, kudos to [@ediezben](https://github.com/ediezben).
- [.] clean up code using ChatGPT -- MUST
- [.] clean up code integrating `GWASLab` -- MUST
- [.] replace LocusZoom with `RACER` -- MUST

--------------

#### The MIT License (MIT)
##### Copyright (c) 2010-2017 Sander W. van der Laan | s.w.vanderlaan [at] gmail [dot] com.
##### Copyright (c) 2010-2020 Sander W. van der Laan | s.w.vanderlaan [at] gmail [dot] com.

Permission is hereby granted, free of charge, to any person obtaining a copy of this software and associated documentation files (the "Software"), to deal in the Software without restriction, including without limitation the rights to use, copy, modify, merge, publish, distribute, sublicense, and/or sell copies of the Software, and to permit persons to whom the Software is furnished to do so, subject to the following conditions:

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