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tbhgvs

tbhgvs contains functions for converting mutations to from genome coordinates to hgvs format.

Install

You can install the package using the following commands:

git clone https://github.com/jodyphelan/tbhgvs.git
cd tbhgvs
python setup.py install

Usage

The fisrt thing to do is to download the fasta and gff files (this only needs to be done once!):

tbhgvs-download-files.py

You can make your own script or you can use you can use the tbhgvs-covert.py script as a commands-line tool.

# Example genome -> hgvs format
tbhgvs-convert.py  genome --pos 3841083 --ref A --alt C

# Example hgvs -> genome format
tbhgvs-convert.py  hgvs  --gene alr --mutation p.Leu113Arg

If you would like to make your own script you can use this example as a template.

ref_db = tbhgvs.reference_db()
ref_db.hgvs2genome("p.Ser450Leu","Rv0667")

ref_db.genome2hgvs([{'pos': '761155', 'ref': 'C', 'alt': 'T'}, {'pos': '761156', 'ref': 'G', 'alt': 'A'}])

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  • Python 100.0%