Dysgu Versions Save

Toolkit for calling structural variants using short or long reads

v1.6.3

2 months ago

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

  • Missing usage of bam file tell when using dysgu-call (improves sensitivity slightly)
  • Minor clustering bug (improves sensitivity slightly)
  • #81 #83

v1.6.2

7 months ago

Minor release

  • Added option to use a file list for filtering normals using dysgu filter input.vcf list_of_normals.txt > output.vcf
  • Bug fix: using -o option with a / in file name, and combined with bam file stdin, now works again

v1.6.1

8 months ago

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 https://github.com/kcleal/dysgu/issues/37
  • Minimum python version now 3.8

Bug fixes

v1.6.0

9 months ago

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

10 months ago

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 renamed filter and supports more options for filtering
  • Improvements in runtime for long-reads

v1.4.2

10 months ago

Improvements

  • Better handling of supplementary reads - slight improvement in SV calling across the board, especially complex events and insertions (+1-2% F1 score)
  • Improved 'filter-normal' command for long reads (tumor-normal SV calling), plus updated CLI

Fixes

  • Avoid over counting supplementary reads
  • More error handling/checking

v1.4.0

11 months ago

Improvements

  • Added filter-normal command for somatic SV filtering.
  • Support for Python 3.11 (linux)
  • Run/call command added to vcf header

Bug fixes

  • Fixed over counting of within-read SVs from same read
  • Prevent clustering of same-read events
  • Fixed supplementary clustering issue

v1.3.16

1 year ago

Minor release with features:

  • dysgu merge now has a default --collapse-nearby True option for better merging of nearby SVs
  • added support for building using conda htslib using python setup.py install --conda-prefix $PREFIX or setting PREFIX as an environment variable

Bug fix:

  • py_call_code error

v1.3.14

1 year ago

Minor release with bug fixes:

Download source code using the dysgu.tar.bz2 link below, otherwise htslib will be missing.

v1.3.12

1 year ago

Minor bug fixes:

  • GC type error when merging at population level
  • --regions-only True now works as expected
  • Contigs are now kept in file when merging

Download source code using the dysgu.tar.bz2 link below, otherwise htslib will be missing.