Skip to content

Store pathologic MC count in output #99

Description

@fellen31

Is your feature request related to a problem? Please describe.
Stranger sets str_status based on the count of pathogenic motifs in a repeat, but does not write the actual count in the output VCF. This makes it hard to see what number str_status is based upon. In the current implementation at clinical genomic, Scout has it's own counting function, the issues with this are described here: Clinical-Genomics/scout#5528

Describe the solution you'd like
I would like Stranger to output the pathogenic count in the output VCF, so that the counting function in Scout can be removed. Reducing complexity, the chance for mistakes and code duplication in the current Stranger-Scout implementation.

Describe alternatives you've considered
Keep it as it is.

Additional context
Should investigate how this works with TRGT v3.

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

    enhancementNew feature or request

    Projects

    No projects

      Milestone

      No milestone

      Relationships

      None yet

      Development

      No branches or pull requests

      Issue actions