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Support for Exome GNOMAD VCFs #73

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4 tasks
ManuelTgn opened this issue Nov 28, 2024 · 0 comments
Open
4 tasks

Support for Exome GNOMAD VCFs #73

ManuelTgn opened this issue Nov 28, 2024 · 0 comments
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enhancement New feature or request v2.1.7

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@ManuelTgn
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Implement compatibility for exome GNOMAD VCFs

Add functionality to support exome-specific variant files from the GNOMAD dataset. Ensure proper parsing, metadata extraction, and compatibility with existing workflows.


Description

Add functionality to support exome-specific variant files from the GNOMAD dataset. Ensure proper parsing, metadata extraction, and compatibility with existing workflows. This will allow users to analyze exome data seamlessly and derive consistent results.


Milestone


Acceptance Criteria

  • Exome VCFs can be loaded and processed without errors.
  • Exome-specific variants are correctly integrated into the pipeline.
  • Results are consistent with genome-wide variant analysis workflows.

Steps to Completion

  1. Define requirements for exome-specific VCF parsing.
  2. Implement support for metadata extraction.
  3. Test compatibility with existing workflows using sample exome datasets.
  4. Validate results against genome-wide analysis outputs.

Labels

  • enhancement
  • v2.1.7

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Additional Notes

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@ManuelTgn ManuelTgn added enhancement New feature or request v2.1.7 labels Nov 28, 2024
@ManuelTgn ManuelTgn added this to the Release v2.1.7 milestone Nov 28, 2024
@ManuelTgn ManuelTgn self-assigned this Nov 28, 2024
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Labels
enhancement New feature or request v2.1.7
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