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Published 20 hours ago • verified publisher icon PacificBiosciences
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Metadata

Copy number variant caller and depth visualization utility for PacBio HiFi reads

Results 2 HiFiCNV issues
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Define CNV genotype strategy

4 comment

HiFiCNV currently outputs `0/1` as a placeholder GT value for all cases. Set policy to either make this unknown or provide a consistent interpretation of copy number as GT.

ctsa avatar ctsa

enhancement

Screening for LOH from CNV results

4 comment

Can I determine which regions are LOH(Loss of Heterozygosity)) based on the results of CNV analysis?

Bio-WYX avatar Bio-WYX

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verified publisher icon PacificBiosciences

Metadata

Copy number variant caller and depth visualization utility for PacBio HiFi reads

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