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Feat/clin 2947 add exomiser #25

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merged 1 commit into from
Oct 1, 2024
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Commits on Oct 1, 2024

  1. feat: CLIN-2947 Add optional exomiser process and tools parameter

    This commit introduces the exomiser tool in the pipeline.
    Additionally, it introduces a new parameter called `tools`, which allows users to specify whether VEP, Exomiser, or both should be executed.
    
    Other changes:
    - Group vep output files (i.e. vcf + .tbi files) in subfolder `vep`.
    - Improve documentation (README, OUTPUT, USAGE, REFERENCE_DATA).
    - Refactor postprocessing workflow to use `def` for local variables and standardize variable names.
    - Update GitHub CI nf-test command: remove local tag constraint and activate CI mode.
    - Replace workflow diagram in README.
    DamienGnst authored and LysianeBouchard committed Oct 1, 2024
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