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DOI

WARNING: MutationInfo is based in outdated packages (read more) and its development has been stalled. Some thoughts on a second and redesigned version exist. Stay tuned!

MutationInfo

MutationInfo is a python package to extract the position, the reference and the alternative sequence of a genomic variant. It accepts variants in dbSNP rs format or in HGVS format.

The main purpose of MutationInfo is to simplify the process of locating a variant in a dataset (i.e. of sequences or variants) that is aligned in a human reference genome (for example hg19 or hg38). It mainly wraps a collection of existing tools with a simple interface.

Example:

from MutationInfo import MutationInfo
mi = MutationInfo()

mi.get_info('rs53576')
{'chrom': '3', 'source': 'UCSC', 'genome': 'hg19', 
 'offset': 8804371L, 'alt': 'G', 'ref': 'A'}

mi.get_info('NM_006446.4:c.1198T>G')
{'chrom': '12', 'source': 'NC_transcript', 'genome': 'GRCh37.p13', 
 'offset': 21355487, 'alt': 'G', 'ref': 'T'}

Documentation

The documentation is here: http://mutationinfo.readthedocs.io/en/latest/

License

MIT License (MIT)

Contact

Alexandros Kanterakis