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Add subcommand to mask sequences #4481

Merged
merged 4 commits into from
Dec 19, 2024
Merged

Add subcommand to mask sequences #4481

merged 4 commits into from
Dec 19, 2024

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jeizenga
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Changelog Entry

To be copied to the draft changelog by merger:

  • vg mask is a new subcommand that can hard mask sequences in a graph

Description

Coordinated with vgteam/libbdsg#208 and vgteam/libhandlegraph#99. I'll update this PR to the merged commit when those are merged.

This PR is a new subcommand that allows you to hard mask sequences in GBZs and libbdsg graphs using a provided BED file. The change is motivated by known assembly errors in GRCh38. Masking these sequences during mapping should significantly narrow the gap in variant calling performance to DRAGEN on the CMRG panel. Another possible use case is masking the chrY PAR.

@jeizenga jeizenga changed the title [WIP] Add subcommand to mask sequences Add subcommand to mask sequences Dec 19, 2024
@jeizenga jeizenga merged commit 8494a52 into vgteam:master Dec 19, 2024
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2 participants