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Additional male example report would be useful. #78

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tollecr opened this issue Sep 3, 2024 · 1 comment
Open

Additional male example report would be useful. #78

tollecr opened this issue Sep 3, 2024 · 1 comment

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@tollecr
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tollecr commented Sep 3, 2024

An additional male example report would be useful for interpretation and understanding of results produced. For example: within section 3 Coverage by Chromosome, are male X chromosomes referred to by XX or X in the plot produced? The female example given, lists an XX and Y0 chromosomes within the plot shown. Would a standard male report list an X and Y? Or would the male X chromosome also be listed as XX? This seems trivial but since the report mentions intersex XXY, it implies that such a notation might be significant. Moreover, an intersex report would also be useful, e.g. XXY or X0, etc. This would help users understand what they should expect when seeing rare or significant results.

@drmjc
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drmjc commented Jan 20, 2025

Thanks for a sensible suggestion, though i don't have examples at hand to action this. will do when the opportunity arises.
cheers

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