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8 changes: 8 additions & 0 deletions README.md
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[![Version](https://img.shields.io/github/v/release/gagneurlab/drop?include_prereleases)](https://github.com/gagneurlab/drop/releases)
[![Version](https://readthedocs.org/projects/gagneurlab-drop/badge/?version=latest)](https://gagneurlab-drop.readthedocs.io/en/latest)


The detection of RNA Outliers Pipeline (DROP) is an integrative workflow to detect aberrant expression, aberrant splicing, and mono-allelic expression from raw RNA sequencing data.

The manuscript is available in [Nature Protocols](https://www.nature.com/articles/s41596-020-00462-5).
Expand All @@ -11,6 +12,7 @@ This [website](https://cmm.in.tum.de/public/paper/drop_analysis/webDir/drop_anal

This [video](https://www.youtube.com/watch?v=XvgjiFQClhM&t=2761s) presents the tools used in DROP and their application to rare disease diagnostics.


<img src="drop_sticker.png" alt="drop logo" width="200" class="center"/>


Expand All @@ -21,9 +23,11 @@ We recommend using a dedicated conda environment (`drop_env` in this example). I
mamba create -n drop_env -c conda-forge -c bioconda drop --override-channels
```


In the case troubles with mamba or conda, we recommend using the fixed `DROP_<version>.yaml` installation file we make available on our [public server](https://www.cmm.in.tum.de/public/paper/drop_analysis/). Install the current version and use the full path in the following command to install the conda environment `drop_env`
```
mamba env create -f DROP_1.4.0.yaml
```

Test installation with demo project
Expand All @@ -47,7 +51,9 @@ For more information on different installation options, refer to the

## What's new


Version 1.4.0 fixes some bugs regarding the split reads counting for FRASER, which only affects cohorts containing samples with different strands (stranded forward, stranded reverse or unstranded). If your cohort contained samples with different strands, please rerun the AS module using version 1.4.0. In addition, due to snakemake updates affecting wBuild and the way we installed FRASER, installing DROP 1.3.3 no longer works. Version 1.3.4 fixes the FRASER version to ensure reproducibility and fixes certain scripts affected by the snakemake update. Running the pipeline with version 1.3.4 should provide the same outlier results as 1.3.3.
Due to snakemake updates affecting wBuild and the way we installed FRASER, installing DROP 1.3.3 no longer works. Version 1.3.4 simply fixes the FRASER version to ensure reproducibility and fixes certain scripts affected by the snakemake update. Running the pipeline with the version 1.3.4 should provide the same outlier results as 1.3.3.

Version 1.3.0 introduces the option to use FRASER 2.0 which is an improved version of FRASER that uses the Intron Jaccard Index metric instead of percent spliced in and splicing efficiency to quantify and later call aberrant splicing. To run FRASER 2.0, modify the `FRASER_version` parameter in the aberrantSplicing dictionary in the config file and adapt the `quantileForFiltering` and `deltaPsiCutoff` parameters. See the [config template](https://github.com/gagneurlab/drop/blob/master/drop/template/config.yaml) for more details. When switching between FRASER versions, we recommend running DROP in a
separate folder for each version. Moreover, DROP now allows users to provide lists of genes to focus on and do the multiple testing correction instead of the usual transcriptome-wide approach. Refer to the [documentation](https://gagneurlab-drop.readthedocs.io/en/latest/prepare.html#limiting-fdr-correction-to-subsets-of-genes-of-interest).
Expand All @@ -56,9 +62,11 @@ separate folder for each version. Moreover, DROP now allows users to provide lis

As of version 1.2.1 DROP has a new module that performs RNA-seq variant calling. The input are BAM files and the output either a single-sample or a multi-sample VCF file (option specified by the user) annotated with allele frequencies from gnomAD (if specified by the user). The sample annotation table does not need to be changed, but several new parameters in the config file have to be added and tuned. For more info, refer to the [documentation](https://gagneurlab-drop.readthedocs.io/en/latest/prepare.html#rna-variant-calling-dictionary).


Also, as of version 1.2.1 the integration of external split and non-split counts to detect aberrant splicing is now possible. In a new column in the sample annotation, simply specify the directory containing the counts. For more info, refer to the [documentation](https://gagneurlab-drop.readthedocs.io/en/latest/prepare.html#external-count-examples).



## Set up a custom project
Install the drop module according to [installation](#installation) and initialize the project in a custom project directory.
### Prepare the input data
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1 change: 1 addition & 0 deletions docs/source/conf.py
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# -- General configuration ---------------------------------------------------

master_doc = 'index'
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1 change: 1 addition & 0 deletions docs/source/installation.rst
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Expand Up @@ -22,6 +22,7 @@ Install the latest version and use the full path in the following command to ins
mamba env create -f DROP_1.4.0.yaml
Installation time: ~ 10min

We can test whether the pipeline runs through by setting up the demo dataset in an empty directory (e.g. ``~/drop_demo``).
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2 changes: 1 addition & 1 deletion drop/__init__.py
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from . import utils
from . import demo

__version__ = "1.4.0"

__version__ = "1.4.0"
1 change: 1 addition & 0 deletions drop/cli.py
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@click.group()
@click_log.simple_verbosity_option(logger)

@click.version_option('1.4.0',prog_name='drop')


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10 changes: 6 additions & 4 deletions drop/installRPackages.R
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Expand Up @@ -23,18 +23,20 @@ if (file.exists(args[1])){
package=gsub("=.*", "", unlist(args)),
version=gsub(".*=", "", unlist(args)),
ref="")
packages[package == version, version:=NA]
packages[package == version, c("min_version", "max_version") := ""]
}
installed <- as.data.table(installed.packages())

for (pckg_name in packages$package) {
package_dt <- packages[package == pckg_name]
pckg_name <- gsub(".*/", "", pckg_name)
version <- package_dt$version
min_version <- package_dt$min_version
max_version <- package_dt$max_version
branch <- package_dt$ref

if (!pckg_name %in% installed$Package || (!is.na(version) && compareVersion(
installed[Package == pckg_name, Version], version) < 0)) {
if (!pckg_name %in% installed$Package || (min_version != "" && (compareVersion(
installed[Package == pckg_name, Version], min_version) < 0 || compareVersion(
installed[Package == pckg_name, Version], max_version) > 0))) {

package <- package_dt$package
message(paste("install", package))
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2 changes: 1 addition & 1 deletion drop/requirementsR.txt
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package version ref
package min_version max_version ref
devtools
gagneurlab/OUTRIDER 1.20.1 1.20.1
gagneurlab/FRASER 1.99.4 1.99.4
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1 change: 1 addition & 0 deletions setup.cfg
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[bumpversion]

current_version = 1.4.0
commit = True

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1 change: 1 addition & 0 deletions setup.py
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name="drop",
version="1.4.0",


author="Vicente A. Yépez, Michaela Müller, Nicholas H. Smith, Daniela Klaproth-Andrade, Luise Schuller, Ines Scheller, Christian Mertes <mertes@in.tum.de>, Julien Gagneur <gagneur@in.tum.de>",
author_email="yepez@in.tum.de",
description="Detection of RNA Outlier Pipeline",
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