Skip to content
This repository was archived by the owner on Jan 24, 2024. It is now read-only.
This repository was archived by the owner on Jan 24, 2024. It is now read-only.

Use phasing information for comp. het. refinement #5

@holtgrewe

Description

@holtgrewe

Is your feature request related to a problem? Please describe.
GATK writes out phasing information. We don't use this but it would be useful for deciphering two adjacent SNVs if they introduce a stop codon, for example.

Describe the solution you'd like
Collect all variants within a predefined windows (from command line arguments, default 50bp). Write out an output line of all combinations that lie on the same haplotype. It is sufficient to support the GATK PGT FORMAT entry for now.

Describe alternatives you've considered
N/A

Additional context
N/A

Metadata

Metadata

Assignees

No one assigned

    Labels

    enhancementNew feature or request

    Type

    No type

    Projects

    No projects

    Milestone

    No milestone

    Relationships

    None yet

    Development

    No branches or pull requests

    Issue actions