Releases: kcleal/dysgu
Releases · kcleal/dysgu
v1.8.0
Improvements
- SV phasing is now supported. Supply dysgu with a 'haplotagged' bam file (with HP and PS tags for reads) and dysgu will automatically phase output SVs. This results in a large increase in performance for long reads (see PacBio benchmark here: https://github.com/kcleal/SV_Benchmark_CMRG_GIAB)
- Added AF allele frequency to FORMAT column #117
- New
progressive
merge method when usingdysgu merge
that allows better scaling to large cohorts. This can be set using--merge-method [ auto | all-vs-all | progressive ]
, default isauto
#82 - Improvements to merging SVs during calling
Fixes
- Fixed DUP sequences ending up in REF column #123
v1.7.0
v1.7.0
This release brings important improvements:
- Much improved sensitivity, especially for long-read data at multi-allelic sites, or clustered SVs on the same haplotype
- Faster runtime
- New preset modes for
pacbio-revio
andnanopore-r10
Issues fixed:
CLI changes:
--no-gt
flag has been removed--mode pacbio
and--mode nanopore
presets have been changed to--mode pacbio-sequel2
and--mode nanopore-r9
- Using run pipeline with long-reads (cram files) now applies compression to the temp bam file
wb3
v1.6.7
v1.6.6
v1.6.5
v1.6.3
New features
- More options to tune sensitivity using
--sd
(span-distance, used for insertion clustering) and--search-depth
options - Ability to filter on mapq when using dysgu-filter
--cohort-update
option for dysgu merge, allowing regenotyped calls to be updated in a cohort file- More efficient merging of large cohorts - option for limiting number of local SV comparisons using dysgu-merge via
--max-comparisons
- Improved somatic filtering
- Slightly improved runtime and memory footprint
- Support for python 3.12
--verbose
option for dysgu test- Added
MAPQS
to format line (mapq supplementary-reads) - Added
NMB
to format line (Edit distance, ignoring large gaps and soft-clips)
Bug Fixes
v1.6.2
v1.6.1
Improvements / changes
- Added
--symbolic-sv-size
option to switch between symbolic or sequence representation - Added parallel processing for merge command
- Added
--ignore-sample-sites
option to ignore the input sample when using--sites
. This is set at True by default and addresses #37 - Minimum python version now 3.8
Bug fixes
v1.6.0
Improvements / changes
- Added 'auto' option for setting --min-support, this is set as default for long-reads
- Long-reads default mapq lowered to 1
- Improved sensitivity for large-insertions using long-reads
- Small numbers of BND events also now reported for long-reads
- Improved precision due to better SV merging and lower numbers of duplicated true-positive calls
- Coverage values now include reads < mapq threshold
- Around 10 % of insertions are now re-classified as DUP; occurs when split-read support is available
Bug fixes
- Segfault for high coverage sample
- Exponential runtime for very large component in graph
v1.5.0
v1.5.0
- Significantly improved precision for long read SV calling
- Long-reads with poorly mapped ends are now ignored, controlled using
--divergence
option - Nearby indels on the same read are now merged, controlled the
--length-extend
option - CLI change:
filter-normal
command has been renamedfilter
and supports more options for filtering - Improvements in runtime for long-reads