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DeepVariant 1.6.0 source code.tar.gz 2023-10-23 102.0 MB
DeepVariant 1.6.0 source code.zip 2023-10-23 102.5 MB
README.md 2023-10-23 1.6 kB
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  • Improved support for haploid regions, chrX and chY. Users can specify haploid regions with a flag. Updated case studies show usage and metrics.
  • Added pangenome workflow (FASTQ-to-VCF mapping with VG and DeepVariant calling). Case study demonstrates improved accuracy
  • Substantial improvements to DeepTrio de novo accuracy by specifically training DeepTrio for this use case (for chr20 at 30x HG002-HG003-HG004, false negatives reduced from 8 to 0 with DeepTrio v1.4, false positives reduced from 5 to 0).
  • We have added multi-processing ability in postprocess_variants which reduces 48 minutes to 30 minutes for Illumina WGS and 56 minutes to 33 minutes with PacBio.
  • We have added new models trained with Complete genomics data, and added case studies.
  • We have added NovaSeqX to the training data for the WGS model.
  • We have migrated our training and inference platform from Slim to Keras.
  • Force calling with approximate phasing is now available.

We are sincerely grateful to * @wkwan and @paulinesho for the contribution to helping in Keras move. * @lucasbrambrink for enabling multiprocessing in postprocess_variants. * @msamman, @akiraly1 for their contributions. * PacBio: William Rowell (@williamrowell), Nathaniel Echols for their feedback and testing. * UCSC: Benedict Paten(benedictpaten), Shloka Negi (@shlokanegi), Jimin Park (@jimin001), Mobin Asri (@mobinasri) for the feedback.

Source: README.md, updated 2023-10-23