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bioconductor-zygositypredictor

Community

Package for prediction of zygosity for variants/genes in NGS data

Installation

To install this package, run one of the following:

Conda
$conda install bioconda::bioconductor-zygositypredictor

Usage Tracking

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Description

The ZygosityPredictor allows to predict how many copies of a gene are affected by small variants. In addition to the basic calculations of the affected copy number of a variant, the Zygosity-Predictor can integrate the influence of several variants on a gene and ultimately make a statement if and how many wild-type copies of the gene are left. This information proves to be of particular use in the context of translational medicine. For example, in cancer genomes, the Zygosity-Predictor can address whether unmutated copies of tumor-suppressor genes are present. Beyond this, it is possible to make this statement for all genes of an organism. The Zygosity-Predictor was primarily developed to handle SNVs and INDELs (later addressed as small-variants) of somatic and germline origin. In order not to overlook severe effects outside of the small-variant context, it has been extended with the assessment of large scale deletions, which cause losses of whole genes or parts of them.

About

Summary

Package for prediction of zygosity for variants/genes in NGS data

Last Updated

Dec 31, 2024 at 12:22

License

GPL-2

Total Downloads

2.8K

Supported Platforms

noarch