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v2.1.0

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@epi2melabs-bot epi2melabs-bot released this 27 Mar 18:54
· 62 commits to master since this release

Changed

  • ClinVar version in SnpEff container updated to version 20240307.
  • Convert to BAM only when --cnv --use_qdnaseq is selected.
  • Update to Clair3 v1.0.6.
  • Update Spectre to fix an error when parsing Clair3 VCFs with multiple AFs.
  • Support for an input folder of multiple BAM files per sample with --bam (instead of only allowing a single BAM per sample).
  • refine_with_sv to be run by chromosome in order to reduce memory footprint.

Fixed

  • Force minimap2 to clean up memory more aggressively. Empirically this reduces peak-memory use over the course of execution.
  • Handling of input VCF files with --vcf_fn.
  • --phased --sv --snp generates a truncated VCF file when # appears in the VCF INFO field
  • Some reporting scripts using too much memory.

Removed

  • CRAM as supported input format.
  • old_ref parameter as providing the reference of an existing CRAM is no longer needed.