- Added splitting script to allow parallelization
- Testing now uses custom script instead of diff, allowing for small differences resulting from differing Perl version
- Removed -h
- Removed setup.sh
- Added -o option to generateannotations.pl
- Added -t to control memory usage
- Simplified test.sh, made output look prettier, now works from any directory
- Added compatibility with newer versions of svtools, along with -s option for nonstandard svtools installations
- Compatibility with vcfanno v0.0.11 (which provides relevant bug fixes)
- Calculate truncation scores for MEIs
- Support running svscore from outside installation directory with -h
- Use correct vcfanno annotation field for BNDs
- Testing now excludes vcfanno annotations to account for future vcfanno changes
- Calculate breakend scores based on scores at possible breakends, not bases
- Revamped conditions for calculating truncation scores
- Rescale probability distributions based on which possible breakpoints have available scores
- Rescale probability distribution again for TOP[n] operations
- Added stress test
- All scores with weighted operations for variants with no PRPOS are now -1
- Changed usage (-i specifies input file, -o now takes comma-delimited list of operations, removed -s)
- Added script which downloads/generates annotation files from single annotation track
- Added test for PRPOS in header if a weighted operation is specified - defaults to unweighted if not found
- Removed -w, added TOP[n]WEIGHTED and MEANWEIGHTED as operations
- Default operation is now TOP10WEIGHTED
- Added INS support, removed TRX support
- Allow for piping VCF files through standard input
- Use exact breakpoint representation of SVs in BEDPE (in conjunction with new version of svtools)
- Calculate span scores between most likely bases
- Calculate truncation scores for DELs
- Treat MEIs like BNDs
- Calculate truncation scores from most likely bases
- Added setup script
- Bug fixes/code improvements
- Error handling
- Account for regions of the genome which do not have CADD scores
- Use vcfanno 0.0.8
- Fixed sorting incompatibilities with vcfanno
- Implemented -o TOP (mean of top n bases) and -o MEAN options
- Added -t (number of bases to use in -o top), -p (gene file strand column), and -v (verbose) options
- Removed exon annotation and -n (SVScore still requires an exon file to create intron file)
- Added support for CNV and MEI variant types (treated as DELs/DUPs)
- Replaced BND with TRX, BNDs still supported but only left/right breakend scores are calculated
- Updated added header lines
- Temporary files go in svscoretmp directory, which is deleted automatically (except under -d)
- Made introns.bed filename more descriptive to avoid problems in switching between annotation systems in the same directory
- Improved performance by returning a score of -1 for regions which are too big (above 1 Mb)
- Added unit test
- Allow for calculation of scores for variants reclassified to BND without changing the ALT field
- Performance improvement (fixed high memory usage bug)
- Use vcfanno v0.0.7 and CADD v1.3
- Fixed off-by-one error in coordinates
- Added -g, -e, -m, and -n options to allow use of custom gene/exon annotation files
- Processes BND variants without mates, provided CIEND field is present
- Updates VCF header with scores added to INFO field
- Intermediate files are tagged with timestamp to prevent collisions from parallel instances
- Automatically detects whether file is gzipped based on filename (removed -z option)
- Always calls vcfanno (removed -a option)
- Outputs sorted VCF to standard output, no longer creates *.scored.txt file
- Relaxed stringency on SVTYPE field
- File prefix now disregards path prefix to always work in current directory
- Removed natural sort requirement. SVScore now automatically sorts input VCF based on ID
- Returns a negative score for variants in regions with no C scores (e.g. GL contigs)
- Returns a score of 100 for deletions/duplications above 1 Mbp
- Initial commit