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Include NAT2 into main PharmCAT #195

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katrinsangkuhl opened this issue Oct 10, 2024 · 4 comments
Open

Include NAT2 into main PharmCAT #195

katrinsangkuhl opened this issue Oct 10, 2024 · 4 comments
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@katrinsangkuhl
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katrinsangkuhl commented Oct 10, 2024

Set the "CPIC ignore" tags on *5G, *5J, *5M, *5U, *6J, *7G, *17

Let me know what else I can do. It would be great to have the autogenerated test results that I can include appropriate allele combinations in the PharmCAT disclaimer as we have for the other genes where applicable.

Currently there is no NAT2 alleles function or phenotype translation. Those would be N/A until assigned by CPIC.

@katrinsangkuhl
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@BinglanLi Could you run the autogenerated tests on NAT2? Or the script to identify the diplotypes that 1) result in the same score (same position input), 2) have a higher score when all variant positions are in one definition/*1 and a lower score if divided between two alleles.

@BinglanLi
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Working on it.

@BinglanLi BinglanLi self-assigned this Oct 16, 2024
@katrinsangkuhl
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Set the "CPIC ignore" tags on *5G, *5J, *5M, *5U, *6J, *7G, *17

Let me know what else I can do. It would be great to have the autogenerated test results that I can include appropriate allele combinations in the PharmCAT disclaimer as we have for the other genes where applicable.

Currently there is no NAT2 alleles function or phenotype translation. Those would be N/A until assigned by CPIC.

Let me know if you need more information for integration of NAT2.

@katrinsangkuhl
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Only include PharmVar alleles.
Is the matcher NAT2 output passed through the other components and function phenotype displayed as N/A?

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