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.
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.
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.