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opencb / biodata

Java library that models biological entities and their equivalents in different file formats typically used in bioinformatics
Apache License 2.0
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remove VUS, it's a duplicate of uncertain significance #232

Open julie-sullivan opened 1 year ago

julie-sullivan commented 1 year ago

This query: https://ws.zettagenomics.com/cellbase/webservices/rest/v5/hsapiens/clinical/variant/clinsigLabels

returns the labels in evidence.avdl, It returns VUS however VUS means the same thing as "uncertain_significance" so this is a duplication.

In the clinvar parser, variants with the VUS signficance are discarded. I've updated this in v4 (and will make a PR for v5) to parse VUS variants as "uncertain_significance"

But I need this duplicate removed first.It's not a valid label to search on.