0.4.0-alpha
Pre-release
Pre-release
·
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
--bamoutoption. 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.
DENOVOandSOMATICcalls now get different filtering treatment to regular germline variants using threshold filters.
Interface changes
- Added
--forest-fileand--somatic-forest-filefor random forest filtering. - Added
--somatics-onlyto report onlySOMATICvariants. - Added
--denovos-onlyto report onlyDENOVOvariants. - Added
--max-somatic-haplotypeswhich limits the number of somatic haplotypes that may be used by thecancercalling model. --consider-reads-with-unmapped-segments-->--no-reads-with-unmapped-segmentsand--consider-reads-with-distant-segments-->--no-reads-with-distant-segments. These filters are now off my default.--max-cancer-genotypesremoved and replaced with--max-genotypes, which is also used by thepolyclonecalling model.- Added
--max-clonesoption for specifying the maximum number of clones for thepolyclonecalling model. - Added
--somatic-filter-expression,--denovo-filter-expression, and--refcall-filter-expressionwhich may be used for hard filtering 'DENOVO' andSOMATICcalls.