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monarch-initiative / genophenocorr

Genotype Phenotype Correlation
https://monarch-initiative.github.io/genophenocorr/stable
MIT License
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Plug VariantValidator HGVS finder into Phenopacket parsing workflow #93

Closed ielis closed 8 months ago

ielis commented 8 months ago

Use VVHgvsVariantCoordinateFinder to parse HGVS c expression as the last resort.

Fix bug in parsing CNV coordinates and change length.