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HET Variant appears 2x in sample - normalize 2xHET to a HOM? #1149

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davmlaw opened this issue Aug 26, 2024 · 0 comments
Open

HET Variant appears 2x in sample - normalize 2xHET to a HOM? #1149

davmlaw opened this issue Aug 26, 2024 · 0 comments

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@davmlaw
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davmlaw commented Aug 26, 2024

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
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@davmlaw