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Interpreting the results #921

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MaryGoAround opened this issue Oct 15, 2024 · 1 comment
Open

Interpreting the results #921

MaryGoAround opened this issue Oct 15, 2024 · 1 comment
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@MaryGoAround
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Hi

For WGS with no control, from which part of the results I can say if there is a duplication in a certain chromosome?

Thanks a lot

@etal
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etal commented Nov 13, 2024

Generally it's safe to say that if the .call.cns file shows a copy number of 3 or more for the chromosome, or the log2 ratio in the .cns is around .58 or higher. The chromosome might be covered by a single segment, or if the signal is noisy then you might see some spurious breakpoints while the rest of the chromosome is fairly consistently showing an elevated log2 value. The .call.cns file is usually the better source for making this determination.

@etal etal added the question label Nov 13, 2024
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