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updated README and setup.py
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xiao-chen-xc committed Dec 13, 2021
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5 changes: 2 additions & 3 deletions README.md
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# Gauchian: WGS-based GBA variant caller

Gauchian is a targeted variant caller for the GBA gene based on a whole-genome sequencing (WGS) BAM file. Gauchian uses a novel method to solve the problems caused by the high sequence similarity with the pseudogene paralog GBAP1 and is able to detect variants accurately in the Exons 9-11 homology region, such as large deletions or duplications between GBA and GBAP1, and GBAP1-like variants in GBA, including p.A495P, p.L483P, p.D448H, c.1263del, RecNciI, RecTL and c.1263del+RecTL. In addition to these challenging variants, Gauchian also calls known pathogenic or likely pathogenic GBA variants classified in ClinVar. Please refer to our [preprint](https://www.medrxiv.org/content/10.1101/2021.11.12.21266253v1) for more details about the method.
Gauchian is a targeted variant caller for the GBA gene based on a whole-genome sequencing (WGS) BAM file. Gauchian uses a novel method to solve the problems caused by the high sequence similarity with the pseudogene paralog GBAP1 and is able to detect variants accurately in the Exons 9-11 homology region, such as large deletions or duplications between GBA and GBAP1, and GBAP1-like variants in GBA, including p.A495P, p.L483P, p.D448H, c.1263del, RecNciI, RecTL and c.1263del+RecTL. In addition to these challenging variants, Gauchian also calls known pathogenic or likely pathogenic GBA variants classified in ClinVar. Gauchian has been tested on Illumina WGS data with standard sequencing depth (>=30X). Gauchian does not work on targeted sequencing data. Please refer to our [preprint](https://www.medrxiv.org/content/10.1101/2021.11.12.21266253v1) for more details about the method.

## Running the program

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--threads NUMBER_THREADS
```

The manifest is a text file in which each line should list the absolute path to an input BAM/CRAM file.
For CRAM input, it’s suggested to provide the path to the reference fasta file with `--reference` in the command.
The manifest is a text file in which each line should list the absolute path to an input WGS BAM/CRAM file. Full WGS BAM/CRAM files are recommended. If you would like to use a subsetted bamlet, please subset using region files in gauchian/data/GBA_region_*.bed. For CRAM input, it’s suggested to provide the path to the reference fasta file with `--reference` in the command.

## Interpreting the output

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2 changes: 1 addition & 1 deletion setup.py
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Expand Up @@ -16,7 +16,7 @@ def readme():
author='Xiao Chen',
author_email='[email protected]',
license='GPLv3',
packages=['gauchian'],
packages=['gauchian', 'gauchian.caller', 'gauchian.depth_calling'],
install_requires=['pysam', 'numpy', 'scipy', 'statsmodels'],
setup_requires=['pytest-runner'],
tests_require=['pytest'],
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