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  • costanza
    Junior Member
    • Oct 2018
    • 6

    #1

    [Announcement] elPrep v4.0.0 released

    We are happy to announce the release of elPrep v4.0.0. elPrep is an open-source, drop-in replacement tool for GATK4/Picard/SAMtools for preparing SAM/BAM files for variant calling that produces identical results, while greatly improving computational performance. See https://github.com/exascience/elprep

    elPrep v4.0.0 introduces multiple new features allowing us to process the preparation steps defined by the GATK Best Practices for variant calling.
    • added base quality score recalibration (BQSR, ApplyBQSR)
    • added optical duplicate marking
    • added MultiQC-compatible metrics
    • support for SAM File Format version 1.6
    • native support for BAM/BGZF files
    • support for FASTA and VCF files
    • support for elPrep-specific elsites and elfasta formats for improved performance
    • split/filter/merge (sfm) now implemented in Go instead of Python
    • added --log-path option to all tools
    • various API and performance improvements
    • changed license to the GNU Affero General Public License version 3 as published by the Free Software Foundation, with Additional Terms
    • updated demos at https://github.com/ExaScience/elprep/tree/master/demo


    Our benchmarks show that elPrep v4.0.0 executes the sort/deduplicate/recalibrate and apply-BQSR-pipeline from the GATK Best Practices up to 12x faster on WES data and 7.5x faster on WGS data, while using similar or fewer compute resources than Picard/GATK4.

    See https://doi.org/10.1371/journal.pone.0132868 for a publication on a previous version of elPrep.
    Attached Files
  • costanza
    Junior Member
    • Oct 2018
    • 6

    #2
    We have now published a preprint of an upcoming paper about elPrep 4.0.0 on bioaRxiv at https://doi.org/10.1101/492249 with more details.

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