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Feature request: Add New Cancer-Specific Database Annotations #6

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berntpopp opened this issue Jul 18, 2024 · 0 comments
Open

Feature request: Add New Cancer-Specific Database Annotations #6

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

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@berntpopp
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Description:
Integrate annotations from cancer-specific databases such as OncoKB, CIViC, My Cancer Genome, and Cancer Hotspots. These databases provide valuable cancer-related variant information that can enhance the utility of the annotated VCF files, particularly for cancer research projects.

Tasks:

  1. Update Configuration File:

    • Add paths for the new cancer-specific VCF annotation files in config.yaml.
    • Define fields for each new VCF annotation in the configuration file.
  2. Utilize Existing Snakemake Rule:

    • Use the generalized rule for annotating with VCF files from Feature request: Generalize annotation script to annotate arbitrary VCF file data #4.
    • Generate required VCF files for OncoKB, CIViC, My Cancer Genome, and Cancer Hotspots annotations.
  3. Documentation:

    • Update the README to include new configuration options and usage instructions for cancer-specific annotations.
    • Document the new rules and their purpose within the script.

Additional Context:
Adding these cancer-specific annotations will improve the utility of the VCF files for cancer research by providing comprehensive and relevant variant information.

@berntpopp berntpopp added the enhancement New feature or request label Jul 18, 2024
@berntpopp berntpopp self-assigned this Jul 18, 2024
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