Skip to content

Look into whether intronic variants are already supported by GA4GH VRS library and/or Biocommons HGVS library. #83

@sallybg

Description

@sallybg

Currently, the mapper does not attempt to handle intronic variants because they have previously failed during VRS object creation, due to not being able to be validated by the Biocommons HGVS library.
A table in this post (https://blog.fulcrumgenomics.com/p/introducing-ferro-hgvs) suggests that Biocommons HGVS library may already support intronic variants.
Can we support intronic variants just by updating these libraries?

Metadata

Metadata

Assignees

Labels

app: backendTask implementation touches the backendapp: mapperTask implementation touches the mappertype: investigationInvestigation/exploration task for understanding requirements

Type

Projects

No projects

Milestone

No milestone

Relationships

None yet

Development

No branches or pull requests

Issue actions