Skip to content

Female X-linked de novo variants are not tagged as dominant by slivar #281

@hamanakakohei

Description

@hamanakakohei

Hi,

I have a question about the behavior of the slivar_small_variant task in tertiary.wdl.
In this task, the following command is used:

pslivar --js slivar-functions.js --family-expr 'dominant:fam.every(segregating_dominant)' .....

This annotates variants matching autosomal or X-linked dominant inheritance by adding INFO/dominant=sample_name, and these variants are later included in the final TSV output.
However, when the proband is female and has a de novo variant on the X chromosome, the dominant tag is not added and the variant is not reported in the TSV.
This seems to be due to the logic in segregating_dominant_x in slivar-functions.js, where inherited dominance is enforced and de novo variants are excluded in female patients.

function segregating_dominant_x(s) {  
  ...  
  // this block enforces inherited dominant, but not find de novos  
  if (("mom" in s) || ("dad" in s)) {  
    if (!((("mom" in s) && s.mom.affected && s.mom.het) ||
          (s.dad && s.dad.affected))) {
      return false;
    }
    ...
  }
  ...
}

Commenting out this block allows female X-linked de novo variants to be tagged correctly.
Is this behavior intentional, or is it a bug that may be fixed in the future?

Thank you.

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