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openvar / variantValidator

Public repository for VariantValidator project
GNU Affero General Public License v3.0
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Update SimpleVariantFormatter to handle hybrid descriptions #639

Closed John-F-Wagstaff closed 1 month ago

John-F-Wagstaff commented 1 month ago

Current Limitation SimpleVariantFormatter has issues with hybrid psudo-vcf type descriptions due to it's origin as a simpler formatting tool, but sometimes it would be useful to be able to submit at least a few more types of non standard description.

Suggested addition Handling psudo-vcf type descriptions like chr17:50198002C>A as well a 17:50198002C>A through this endpoint.

Alternative solutions We could otherwise submit to the core VariantValidatior, but this is overkill for our current needs and adds significant, undesirable, overhead to the validation.

Peter-J-Freeman commented 1 month ago

Now completed.

https://rest.variantvalidator.org/LOVD/lovd/GRCh38/chr9%3A133449833T%3EC/all/all/False/True?content-type=application%2Fjson

Should now handle any genomic variant that VV can handle