0.4.0-alpha
Pre-release
Pre-release
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
andSOMATIC
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 onlySOMATIC
variants. - Added
--denovos-only
to report onlyDENOVO
variants. - Added
--max-somatic-haplotypes
which limits the number of somatic haplotypes that may be used by thecancer
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 thepolyclone
calling model.- Added
--max-clones
option for specifying the maximum number of clones for thepolyclone
calling model. - Added
--somatic-filter-expression
,--denovo-filter-expression
, and--refcall-filter-expression
which may be used for hard filtering 'DENOVO' andSOMATIC
calls.