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Feature request: Add Gene or Region-Based Annotation using SnpSift Intervals #5

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berntpopp opened this issue Jul 18, 2024 · 0 comments
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enhancement New feature or request

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Description:
Enhance the annotation pipeline by integrating SnpSift intervals to provide gene or region-based annotations. This feature will allow users to annotate VCF files based on specific genomic intervals, such as genes or regions of interest.

Requirements:

  1. Update configuration file:

    • Include parameters for SnpSift intervals, such as the intervals file path.
  2. Add new Snakemake rule:

    • Create a rule to run SnpSift intervals on the annotated VCF files.
    • Example command:
      java -jar SnpSift.jar intervals -v intervals.bed input.vcf | bgzip -c > output.vcf.gz
  3. Output:

    • Annotated VCF files with INFO fields based on specified genomic intervals.
  4. Documentation:

    • Update the README to include new steps and usage instructions for the SnpSift intervals feature.
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