Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Add Illumina/Hap.py module for germline samples with truth set. #987

Closed
adamrtalbot opened this issue Mar 31, 2023 · 1 comment
Closed
Labels
enhancement New feature or request

Comments

@adamrtalbot
Copy link
Contributor

Description of feature

First step to delivering validation feature as discussed in #798

Add the happy module which runs when:

  • A truth set is supplied via the samplesheet (additional column required)
  • --tools happy is included in commmand
  • The sample has had germline short variant calling performed on it (e.g. haplotypecaller, freebayes)

Out of scope: Somatic calling, CNVs, structural variants, reporting of variants for some final validation step.

Running the module should include the stratifications and write sample to the --outdir. Results should be passed to multiqc for inclusion in the report.

@adamrtalbot adamrtalbot added the enhancement New feature or request label Mar 31, 2023
@maxulysse
Copy link
Member

I think the plan would be to benchmark output from sarek with a separate pipeline for now

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
enhancement New feature or request
Projects
None yet
Development

No branches or pull requests

2 participants