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0.6 (05/12/17)

  • 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

0.5.1 (06/20/16)

  • 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

0.5 (05/24/16)

  • 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

0.4 (11/12/15)

  • 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

0.3 (08/17/15)

  • 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)

0.2 (06/29/2015)

  • 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

0.1 (06/09/2015)

  • Initial commit