Skip to content

0.4.0-alpha

Pre-release
Pre-release
Compare
Choose a tag to compare
@dancooke dancooke released this 04 Jul 16:52
· 1791 commits to master since this release

This is a major release with important new features, enhancements, and performance improvements.

New features

  • New polyclone calling model for bacterial and viral data.
  • New population calling model with Hardy-Weinberg priors.
  • Random forest filtering for germline and somatic variants using ranger.
  • Generate an 'evidence' BAM for single sample calling with the --bamout option. See the wiki page for details.

Calling improvements

  • The cancer caller can now model more than one somatic haplotype which improves calling sensitivity, and also allows somatic phasing. See cancer calling model wiki for more details.
  • Optimisation of the cancer model improves sensitivity for low frequency mutations.
  • New unified indel mutation model used for germline, de-novo, and somatic indel calling.
  • New filter Measures. See wiki for full list.
  • Tumour-only calling now much faster and more accurate.
  • Uses variant prior model to deduplicate haplotypes for all models, resulting in more biologically realistic calls.
  • DENOVO and SOMATIC calls now get different filtering treatment to regular germline variants using threshold filters.

Interface changes

  • Added --forest-file and --somatic-forest-file for random forest filtering.
  • Added --somatics-only to report only SOMATIC variants.
  • Added --denovos-only to report only DENOVO variants.
  • Added --max-somatic-haplotypes which limits the number of somatic haplotypes that may be used by the cancer calling model.
  • --consider-reads-with-unmapped-segments --> --no-reads-with-unmapped-segments and --consider-reads-with-distant-segments --> --no-reads-with-distant-segments. These filters are now off my default.
  • --max-cancer-genotypes removed and replaced with --max-genotypes, which is also used by the polyclone calling model.
  • Added --max-clones option for specifying the maximum number of clones for the polyclone calling model.
  • Added --somatic-filter-expression, --denovo-filter-expression, and --refcall-filter-expression which may be used for hard filtering 'DENOVO' and SOMATICcalls.