Metadata-Version: 2.1
Name: janis-pipelines.pipelines
Version: 0.12.0
Summary: Bioinformatics tools for Janis; the Pipeline creation helper
Home-page: https://github.com/PMCC-BioinformaticsCore/janis-pipelines
Author: Michael Franklin
Author-email: michael.franklin@petermac.org
License: GNU
Platform: UNKNOWN
Classifier: Development Status :: 2 - Pre-Alpha
Classifier: Intended Audience :: Developers
Classifier: Intended Audience :: Science/Research
Classifier: Topic :: Scientific/Engineering :: Bio-Informatics
Description-Content-Type: text/markdown
Requires-Dist: janis-pipelines.unix (>=0.10.0)
Provides-Extra: ci
Requires-Dist: keyring (==21.4.0) ; extra == 'ci'
Requires-Dist: setuptools ; extra == 'ci'
Requires-Dist: wheel ; extra == 'ci'
Requires-Dist: twine ; extra == 'ci'

# Janis - Example Pipelines

[![PyPI version](https://badge.fury.io/py/janis-pipelines.pipelines.svg)](https://badge.fury.io/py/janis-pipelines.pipelines)

This repository contains workflows written using [Janis](https://github.com/PMCC-BioinformaticsCore/janis).

These workflows are installed by default, but are available on PIP with:
```bash
pip3 install janis-pipelines.pipelines
```

## Documentation

These pipelines are documented with run instructions here: https://janis.readthedocs.io/en/latest/pipelines/index.html

## More information

These pipelines are made available through the entrypoint: `janis.extension=pipelines`.

They can be imported in Python with the following:

```python
from janis_pipelines import WGSGermlineGATK

WGSGermlineGATK().translate("wdl")
```

## Pipelines

**Whole genome sequencing (WGS) pipelines**:

- [Germline](https://github.com/PMCC-BioinformaticsCore/janis-examplepipelines/tree/master/workflows/wgs_germline/)
    - [Germline (GATK only)](https://github.com/PMCC-BioinformaticsCore/janis-examplepipelines/tree/master/workflows/wgs_germline_gatk)
- [Somatic](https://github.com/PMCC-BioinformaticsCore/janis-examplepipelines/tree/master/workflows/wgs_somatic/) 
    - [Somatic (GATK only)](https://github.com/PMCC-BioinformaticsCore/janis-examplepipelines/tree/master/workflows/wgs_somatic_gatk)

**Other**:

- [Alignment](https://github.com/PMCC-BioinformaticsCore/janis-examplepipelines/tree/master/workflows/alignment/)


## Reference files:

- Tested with `hg38` from [GCS: Broad Institute](https://console.cloud.google.com/storage/browser/genomics-public-data/references/hg38/v0/)


## WGS Germline pipeline

> See the - [germline](https://github.com/PMCC-BioinformaticsCore/janis-examplepipelines/tree/master/workflows/wgs_germline/)
folder for more information, the workflow and CWL / WDL translations.

The WGS germline pipeline takes a FASTQ pair, aligns, sorts, marks duplicates and calls variants
across GATK4, Strelka and VarDict. These variants are combined and sorted at the end.

These variants were validated against the [Genome in a Bottle](#) data sets to achieve:

- Recall: 99.25%
- Precision: 92.02%

These results were identical across 3 research institutes (combination of Slurm / PBS / Torque) 
and Google Cloud platform. The pipeline took approximately 27-30 hours to run at a 30x coverage,
depending on the resource constraint.


## WGS Somatic pipeline for tumor-normal variant discovery

> See the [somatic](https://github.com/PMCC-BioinformaticsCore/janis-examplepipelines/tree/master/workflows/wgs_somatic/)
folder for more information, the workflow and CWL / WDL translations.

The WGS somatic pipeline takes normal and tumor FASTQ pairs, aligns, sorts and marks duplicates separately, and
 then performs tumor-normal variant discovery across GATK4, Strelka and VarDict (in somatic modes). These variants are combined and sorted at the end.

This pipeline was run successfully across a similar set of research institutes (as germline) and the cloud,
however these variants have not been validated yet.


