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exomiser / Exomiser

A Tool to Annotate and Prioritize Exome Variants
https://exomiser.readthedocs.io
GNU Affero General Public License v3.0
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Variants present in unaffected individuals #353

Open susanammc opened 5 years ago

susanammc commented 5 years ago

Hi, I've been using an old version of exomiser for a while. Recently I installed the version 12 and noticed some differences. When I run a family with 3 affected and 1 unaffected individuals using the compound heterozygous model my output includes genes with variants in the 3 affected individuals as expected. However, but some genes also have the same variants in the unaffected individual. Can you explain me how this happens? Is this related with the incomplete penetrance? Thanks

julesjacobsen commented 5 years ago

Which was the old version you were using? Can you attach the analysis.yml file you used?

susanammc commented 5 years ago

I used the Exomiser v7.2.1. I'm attaching the .yml file that I used. I tested several times with different inheritance modes. Thanks, Susana

Jules Jacobsen notifications@github.com escreveu no dia terça, 29/10/2019 à(s) 11:08:

Which was the old version you were using? Can you attach the analysis.yml file you used?

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