Mutalyzer HGVS variant description parser.
Project description
Package to syntax check and convert Mutalyzer HGVS variant descriptions into a dictionary model to easily access descriptions information in a programmatically manner.
Features:
Accepts HGVS descriptions with multiple variants (one HGVS allele).
Any description sub-part can be parsed and converted as well.
Supports common deviations to the HGVS guidelines.
Command line and library interfaces available.
Quick start
Parse and convert a description from the command line:
$ mutalyzer_hgvs_parser -c "NG_012337.1:c.20del"
{
"reference": {
"id": "NG_012337.1"
},
"coordinate_system": "c",
"variants": [
{
"location": {
"type": "point",
"position": 20
},
"type": "deletion",
"source": "reference"
}
]
}
The to_model() function can be used for the same purpose:
>>> from mutalyzer_hgvs_parser import to_model
>>> model = to_model("NG_012337.1:c.20del")
>>> model['reference']
{'id': 'NG_012337.1'}
Please see ReadTheDocs for the latest documentation.
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