This release introduce 'BigWig' annotation, prioritization options and transcripts view, improve samples management, INFO/tags rename, annotation databases generation and operations, configuration files in YAML format, and python packages stability.
News
- Add annotation method 'BigWig'
- Add prioritization options:
- SQL syntax available to define filters
- New 'Class' prioritization field
- New transcripts view:
- Create a transcript view, using a structure from multiple source type (e.g. snpEff, external annotation databases)
- Mapping between multiple transcript ID source (e.g. refSeq, Ensembl)
- Transcripts prioritization, using same prioritization process than variants
- Export transcripts table as a file, in multiple format such as VCF, TSV, Parquet
- Export with a specific sample list
- Rename or remove INFO/tags before exporting
- Configuration and parameters files in YAML format allowed
- Add dynamic transcript column for NOMEN calculation (using transcript prioritization column)
- Add plugins:
- 'update_databases'
Updates
- Improve snpEff annotations operations
- New option 'uniquify' for dbSNFP generation, identification of columns type
- Management, check and export of samples columns
- Improve query type mode
- Improve splice annotation
- Improve NOMEN generation
Fixes
- Genotype format detection
- Fix packages releases
- Fix parameters and configuration files options
- Fix calculations list and parametrization
- Fix empty file export
- Fix BED annotation with parquet method
- More explicite log messages