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A structural variation pipeline for short-read sequencing

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GATK-SV

A structural variation discovery pipeline for Illumina short-read whole-genome sequencing (WGS) data.

For technical documentation on GATK-SV, including how to run the pipeline, please refer to our website.

Repository structure

  • /carrot: Carrot tests
  • /dockerfiles: Resources for building pipeline docker images
  • /inputs: files for generating workflow inputs
    • /templates: Input json file templates
    • /values: Input values used to populate templates
  • /scripts: scripts for running tests, building dockers, and analyzing cromwell metadata files
  • /src: main pipeline scripts
    • /RdTest: scripts for depth testing
    • /sv-pipeline: various scripts and packages used throughout the pipeline
    • /svqc: Python module for checking that pipeline metrics fall within acceptable limits
    • /svtest: Python module for generating various summary metrics from module outputs
    • /svtk: Python module of tools for SV-related datafile parsing and analysis
    • /WGD: whole-genome dosage score scripts
  • /wdl: WDLs running the pipeline. There is a master WDL for running each module, e.g. ClusterBatch.wdl.
  • /website: website code

CI/CD

This repository is maintained following the norms of continuous integration (CI) and continuous delivery (CD). GATK-SV CI/CD is developed as a set of Github Actions workflows that are available under the .github/workflows directory. Please refer to the workflow's README for their current coverage and setup.

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  • Python 39.9%
  • WDL 33.7%
  • R 16.7%
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