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Modify rank model for reduced penetrance genes #69

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henrikstranneheim opened this issue Dec 2, 2016 · 1 comment
Open

Modify rank model for reduced penetrance genes #69

henrikstranneheim opened this issue Dec 2, 2016 · 1 comment

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@henrikstranneheim
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We have a need to modify the rank model category allele frequency for certain genes that have patogenic variants associated to them even though they are quite frequent in the population. Just like we relax the inheritance models.

For instance PRRT2 in case 16139 (16_29825015_G_GC) that has a EXAC AF=0.0049, but is still associated with disease. Or Rosa's case.

This should only be done on a set of genes which displays this reduced penetrance to prevent overloading the variant list with too common variants in general.

@dnil
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dnil commented Oct 24, 2024

Very good. I guess we are currently looking at passing these through as matching Managed variants, but the idea of variant level matching is fun! Maybe we could do something with that!

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