Skip to content

VCF - Genome Nexus annotation script #42

Closed
@n1zea144

Description

@n1zea144

Background -

AACR Project GENIE collects VCFs of various flavors from consortium members. Currently they use vcf2maf to annotate these files. We desire to move them to the Genome Nexus platform. There we would like to create a script for annotating a set of VCF files using our GN annotation pipeline. Rough outline:

Point tool to folder which contains VCFs of various shapes/size.
Run vcf2vcf over files to normalize them.
Run normalized vcfs through @ao508 vcf2maf converter.
Annotate mafs using genome nexus annotation client.
Combine mafs into single file for import.
Note, for 2:
vcf2vcf is required because there is a need to normalize allele depths which is handled by FixAllelDepths. Ensure the following option is set (should be set by default)

--retain-format GT,AD,DP

These three fields contain the values needed to extract t_depth, t_ref_count, t_alt_count, n_depth, n_ref_count, n_alt_count.

https://github.com/mskcc/vcf2maf

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

    backend-scrumitems centered around engineering activities

    Type

    No type

    Projects

    No projects

    Relationships

    None yet

    Development

    No branches or pull requests

    Issue actions