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Graphtyper for calling human X-chromosome variants #145

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Sirtx opened this issue Jan 17, 2024 · 0 comments
Open

Graphtyper for calling human X-chromosome variants #145

Sirtx opened this issue Jan 17, 2024 · 0 comments

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@Sirtx
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Sirtx commented Jan 17, 2024

Hi,

I'd like to ask if Graptyper can reliably call X-chromosome variants on GRCh38-aligned BAMs, and if there's any parameters I should use or something else to note? I.e. with GATK, user should provide whether sample is female or male to call the X-chromosome as diploid/haploid, and also coordinates of pseudoautosomal regions.

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