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Mito Variants in T2T-Q100 DraftBenchmark #35

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yueyaog opened this issue Dec 18, 2024 · 0 comments
Open

Mito Variants in T2T-Q100 DraftBenchmark #35

yueyaog opened this issue Dec 18, 2024 · 0 comments

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@yueyaog
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yueyaog commented Dec 18, 2024

Hi GIAB folks,

I have a question regarding mito variants in the T2T-Q100 Draft Benchmark. Currently, I don’t see any mito variants in the NIST_HG002_DraftBenchmark_defrabbV0.019 or the GIAB v4.2.1 benchmark.

While there are some mito variants in the GIAB v4.2.1 VCF, they are not within the high-confidence regions. Are there plans to include mito variants in the benchmark set, or should we not expect them to be part of the draft benchmark?

Thanks,
Gao

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