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Add support for breakend replacement alleles in SVCluster #8408

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merged 2 commits into from
Jul 12, 2023

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mwalker174
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Implements allele collapsing for "breakend replacement" BND alleles, as described in section 5.4 of the VCFv4.2 spec.

Also:

  • Validates symbolic alt allele for non-BND SV classes when attempting to collapse multiple alt alleles.
  • Greatly improves unit test coverage for CanonicalSVCollapser.

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@epiercehoffman epiercehoffman left a comment

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Looks fine to me. Approved pending final checks on downstream impacts and the svtk behavior

final Allele refAllele = collapseRefAlleles(representative.getContigA(), start);
final List<Allele> altAlleles;
if (type == GATKSVVCFConstants.StructuralVariantAnnotationType.BND) {
altAlleles = Collections.singletonList(constructBndAllele(strandA, representative.getStrandB(), representative.getContigB(), end, refAllele));
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Suggested change
altAlleles = Collections.singletonList(constructBndAllele(strandA, representative.getStrandB(), representative.getContigB(), end, refAllele));
altAlleles = Collections.singletonList(constructBndAllele(strandA, strandB, representative.getContigB(), end, refAllele));

@mwalker174 mwalker174 merged commit d79823f into master Jul 12, 2023
20 checks passed
@mwalker174 mwalker174 deleted the mw_collapse_bnd_alleles branch July 12, 2023 20:43
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2 participants