Skip to content

Specify custom pathogenic control variants for normalization #56

Description

@catchambers

Deliverable

Specify a list of pathogenic control variants to use during normalization.

Nonsense Variants (Default)
Uses stop codon variants (*) as pathogenic controls.

{
    "pathogenic_control": "nonsense"
}

Custom List of Pathogenic Variants

{
    "pathogenic_control": ["E501K"],
}

Possible Use cases:

  • Known deleterious mutations
  • Spike-in experimental controls
  • Disease-associated variants

Checklist

  • batch_processing.md
  • usage.md
  • test_batch_normalization.py
  • tile_configs.py
  • batch_normalization.py
  • batch_config.py
  • batch_config.json

Estimated effort

Activity

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment

Metadata

Metadata

Assignees

No one assigned

    Labels

    No labels
    No labels

    Type

    No type

    Projects

    No projects

      Milestone

      No milestone

      Relationships

      None yet

      Development

      No branches or pull requests

      Issue actions