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

363 account for compound het variants #368

Open
wants to merge 5 commits into
base: main
Choose a base branch
from

Conversation

yaseminbridges
Copy link
Contributor

@yaseminbridges yaseminbridges commented Nov 5, 2024

This introduces enhanced ranking functionality to handle compound heterozygous variants in PhEval results through a new grouping_id parameter. The grouping_id allows variants that contribute collectively to a phenotype (e.g., compound heterozygous variants within the same gene) to be ranked together (and not penalised), ensuring their combined effect is accurately represented in the analysis. If variants are not compound heterzygous, they will be ranked with the default method.

If a grouping_id is not specified the code will not break, it will just default to the current method of ranking variants - this is important as not all VGPAs will give an idea of whether a variant is compound het or not and so they can just dismiss this.

@yaseminbridges yaseminbridges linked an issue Nov 5, 2024 that may be closed by this pull request
Copy link
Member

@souzadevinicius souzadevinicius left a comment

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

LGTM

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

Successfully merging this pull request may close these issues.

Account for compound het variants
3 participants