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Release 1.4.0

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@manuelesimi manuelesimi released this 15 Nov 19:50
· 306 commits to master since this release
  • Various bug fixes. Indel performance is now state of the art on NA12878 with the V37 mapper
    (org.campagnelab.dl.genotype.mappers.GenotypeMapperV37). Note that .sbi files must be
    rebuilt with Goby 3.3.0+ (some bug fixes were done in Goby).
  • Framework TrainModel: added support for Mixup (See https://arxiv.org/abs/1710.09412.)
    Training with mixup is supported for all types of models developed in this project.
  • Debugged LSTM inputs for genotypes. Similar performance to fully connected architecture,
    but more compact models. Use V38 genotype mapper with the LSTM architecture.
  • Draft of genotype segment modeling. Files in the .sbi format can be converted
    to the .ssi format, which can store data about consecutive bases of the genome (segment).
    This is useful when genomic context is important to some predictions, and could be used
    as well for training models for CNV and structural rearrangements. This is work in progress.
  • Draft SBI simulator (simulate-sbi.sh) to produce an SBI file corresponding to a VCF file, where
    counts are non-zero only for bases of a true genotype.
  • Produce SBI files in a non-sorted format, suitable to convert to .ssi format (parallel-segments-sbi.sh)
  • Draft SSI to SBI converter tool (sbi-to-ssi.sh). Takes a non-sorted .sbi file and produce a .ssi file where
    genotypes are represented base by base over a genomic segment.