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monarch-initiative / genophenocorr

Genotype Phenotype Correlation
https://monarch-initiative.github.io/genophenocorr/stable
MIT License
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Support mapping HGVS annotation to variant genomic coordinates #76

Closed ielis closed 8 months ago

ielis commented 9 months ago

Support mapping an HGVS annotation to VariantCoordinate.

E.g. NM_005912.3:c.253A>G -> chr18:60372097T>C.

This can be useful if HGVS annotations are all we have.

ielis commented 8 months ago

Done in #77