There is a newer version of the record available.

Published October 4, 2023 | Version v1.8.2
Software Open

epi2me-labs/wf-human-variation: v1.8.2

Authors/Creators

  • 1. @nanoporetech
  • 2. Oxford Nanopore Technologies
  • 3. @Birkbeck
  • 4. @LooseLab

Description

Added

  • The SNP workflow will filter the final VCF to only return calls in the regions specified with --bed
    • Avoid clair3 calling variants in regions that flank those specified in the BED

Fixed

  • SNP subworkflow was ignoring BED file and analysing all regions
  • Report SV crashing when generating the size plots with only large indels
  • Downsampling not working when targeting regions with --bed
  • --phase_mod not emitting the haplotagged bam files
  • Report crashing when loading a clinvar-annotated VCF file with multiple GENEINFO/CLNVC entries

Removed

  • Default local executor CPU and RAM limits

Files

epi2me-labs/wf-human-variation-v1.8.2.zip

Files (2.2 MB)

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md5:c930fd0e33325e84f320c12417953f66
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Additional details

Related works

Is supplement to
Software: https://github.com/epi2me-labs/wf-human-variation/tree/v1.8.2 (URL)

Software

Repository URL
https://github.com/epi2me-labs/wf-human-variation