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Name
Daniel Nilsson
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@dnil
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[email protected]

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Currently the normal max is at 39, reflecting e.g. GeneTests. But in practice this flags many normal individuals as intermediates for no apparent gain. Suggest updating to 69, from eyeballing https://pathstr.bioinf.be.

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@hdashnow
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hdashnow commented Dec 5, 2025

Hi @dnil, is there a publication for this threshold? We generally limit these changes to peer-reviewed or at least pre-printed findings. If not, maybe you could publish your findings?

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dnil commented Dec 9, 2025

Ahh, I think I found it. It's a mismatch in locus definition for trgt vs for sizing PCR again. Seems we are getting counts for some nearby polymorphisms into the tally. Will try to update and tighten it a little.

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dnil commented Dec 9, 2025

Yes. Suggest we close this one. See #309 instead.

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4 participants