HGVS to VCF and vice versa. - Githubissues

mutalyzer / mutalyzer2

HGVS variant nomenclature checker

https://mutalyzer.nl

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HGVS to VCF and vice versa. #423

Open jfjlaros opened 7 years ago

jfjlaros commented 7 years ago

This is a request I get a lot.

The only way of doing this properly is to make use of the reference sequence:

HGVS is 3' aligned, VCF is 5' aligned.
The reference nucleotides are not always present in HGVS.

Once we have support for chromosomal reference sequences, this would be an easy to implement and very useful addition to Mutalyzer.