SACGF / SACGF/variantgrid

HET Variant appears 2x in sample - normalize 2xHET to a HOM?

Open
#1,149 0 comments 0 reactions 0 assignees View on GitHub
Dominant language
Python
Stars
30
Forks
3
Avg merge
9h 28m
Merged PRs (30d)
42

Description

This SV was normalized by bcftools. There were 2 different HET variants in the VCF but they normalized to be the same so they ended up with 2x HET variants:

https://variantgrid.com/variantopedia/view_variant/268351218

Should we change the zygosity in this case?

Not sure how often this has ever happened

Contributor guide

No contributing guide indexed for this repository

Assessment

This issue has not been assessed yet.

Get new issues in your inbox

A short digest of beginner-friendly GitHub issues.