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v1.10.0

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@epi2melabs-bot epi2melabs-bot released this 24 Jan 00:53
· 264 commits to master since this release

Added

  • Clair3 4.3.0 models.

Changed

  • --phase_vcf, --joint_phasing and --phase_mod are now deprecated for --phased; see the README for more details.
  • --use_longphase_intermediate is now deprecated, and --use_longphase false will use whatshap throughout consistently
  • Running --phase --snp --use_longphase false will now phase indels too
  • --basecalling_cfg currently provides the configuration to Clair3.
  • The clair3: prefix to Clair3 specific models is no longer required.

Fixed

  • CNV report generation fails if there is no consensus on the copy number of a chromosome
    • Undetermined category has been added to the Chromosome Copy Summary to account for these cases
  • readStats reports metrics on the downsampled BAM when --downsample_coverage is requested.
  • Spurious warning for missing MM/ML tags when a BAM fails the coverage threshold

Removed

  • wf-basecalling subworkflow
    • fast5_dir input and other basecalling related options have been removed from the workflow parameters
    • Users should run the standalone wf-basecalling workflow and provide the output to wf-human-variation
  • Mapula statistics with --mapula