Skip to content

[FEATURE] Support generating a pooled reference in cnvkit/reference #12656

Description

@paddyharker1005

Is your feature request related to a problem? Please describe

Currently the cnvkit/reference module only seems to support generating a flat reference as you cannot provide coverage files to generate a pooled normal reference e.g

cnvkit.py reference normal1_coverage.cnn normal2coverage.cnn ... -f hg38.fa -o reference.cnn

Describe the solution you'd like

The module should be extended by adding an input for the normal-sample coverage .cnn files and passing those files positionally to cnvkit.py reference. That is the mechanism CNVkit itself uses to distinguish a pooled reference from a flat reference. The current module only supplies --fasta, --targets, and --antitargets, so CNVkit has no normal coverage profiles to pool and therefore builds a flat reference.

Describe alternatives you've considered

No response

Additional context

No response

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