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Simpler Snakemake pipeline and documentation

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@jmonlong jmonlong released this 19 Jul 14:23
· 2 commits to master since this release
ed3e26d

What's new

  • Improved the Snakemake pipeline
    • Slightly more robust to using custom named sets of regions
    • Updated docker container and link repo with quay.io
    • Added more documentation, including an example to evaluate calls against the GIAB truthset
    • Integrated the scripts used by the Snakemake pipeline into a wrapper function. Now the evaluation can be run more easily as a command-line tool. The Snakemake pipeline is also simpler to use and set up (just need the Snakefile and a config.yaml).
    • Adde a way to define envmodules, for example, to be used in HPC platforms.
  • More on the repeat "wiggle room" to help match SVs that might be positioned differently within simple repeats
    • Added documentation
    • Prepareed small input files for GRCh38 and GRCh37.
  • Added some documentation for misc functions (frequency annotation, repeat annotation, SV clustering and VCF parsing).
  • Improved plot_ranges function
    • SVs are displayed with consistent colors and shapes.
    • No errors when no SVs to plot.
    • Ability to compare to another run
  • Tweaked explore_eval_svs to better look at FPs/FNs/TPs