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Add -x hifi preset for PacBio HiFi genomic DNA - #30

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DylanCosto merged 1 commit into
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hifi-preset
Oct 28, 2026
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DylanCosto merged 1 commit into
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hifi-preset

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@DylanCosto DylanCosto commented Oct 28, 2026 •

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Adds -x hifi (alias map-hifi) for PacBio HiFi genomic DNA, and ont as an alias for dna. Preset names now ignore case.

-x hifi is the dna preset plus one step at output: stretches of fragmented long gaps are realigned under minimap2 map-hifi scoring, so one SV isn't split into several false deletions. Placement, MAPQ and filtering are the same as dna, and it uses dna indexes. dna output is unchanged.

HG002 whole genome, against minimap2 map-hifi:

  • CPU time: 3.9x less.
  • SNP F1: 0.9984 (minimap2 0.9980).
  • Indel F1: 0.9922 (minimap2 0.9868).
  • SV F1, strict: 0.8061 (minimap2 0.8091).

Report: docs/validation/2026-10-28-hifi/. Iso-Seq/Kinnex RNA hasn't been tested yet.

-x hifi (alias map-hifi) is the dna preset plus one output-stage step:
stretches of fragmented long gaps are realigned under map-hifi scoring,
so one SV is not split into several false deletions. Placement, MAPQ and
filtering are unchanged from dna. Preset names now ignore case, and ont
is an alias for dna (dna output unchanged).

Validation: docs/validation/2026-10-28-hifi/

Co-Authored-By: Claude Opus 5.5 <noreply@anthropic.com>
@DylanCosto
DylanCosto merged commit c324328 into main Oct 28, 2026
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@DylanCosto DylanCosto mentioned this pull request Oct 28, 2026
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