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Use shortened VCF feature description for some types of insertions and deletions #3901

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merged 1 commit into from Sep 7, 2023

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@cmdcolin cmdcolin commented Sep 7, 2023

The HG002 SV benchmark VCF has a particular way of describing insertions and deletions where it exactly specifies the deletion and insertion sequence in REF and ALT fields, even when these are quite long.

The resulting description strings generated on the VCF track are kind of unreadable as a result. This PR makes it so that insertions and deletions longer than 5bp are turned into just a string saying e.g. "10bp DEL" or "10bp INS"

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@github-actions github-actions bot added the needs label triage Needs a label to show in changelog (breaking, enhancement, bug, documentation, or internal) label Sep 7, 2023
@cmdcolin cmdcolin removed the needs label triage Needs a label to show in changelog (breaking, enhancement, bug, documentation, or internal) label Sep 7, 2023
@@ -115,7 +115,7 @@ export function getSOAndDescByExamination(ref: string, alt: string) {
} else if (alt === '<DEL>') {
return ['deletion', alt]
} else if (alt === '<INV>') {
return ['deletion', alt]
return ['inversion', alt]
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this was also incorrectly saying type features were deletions, which would show up on feature.get('type'). subtle but needing a fix :)

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cmdcolin commented Sep 7, 2023

fixes #3892

@cmdcolin cmdcolin added the enhancement New feature or request label Sep 7, 2023
@cmdcolin cmdcolin force-pushed the cleanup_indel_vcffeature_description branch from 653bc07 to e870730 Compare September 7, 2023 16:36
@cmdcolin cmdcolin merged commit 8e17ca6 into main Sep 7, 2023
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@cmdcolin cmdcolin deleted the cleanup_indel_vcffeature_description branch September 7, 2023 18:35
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