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Mutation count in combined studies with genepanels seems to be incorrect #10967

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MatthijsPon opened this issue Aug 30, 2024 · 1 comment · May be fixed by #11331
Open

Mutation count in combined studies with genepanels seems to be incorrect #10967

MatthijsPon opened this issue Aug 30, 2024 · 1 comment · May be fixed by #11331

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@MatthijsPon
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The combined studyview shows that the IPO13 gene has a 100% mutation frequency (in the mutations table). However, upon closer inspection, the mutations table does not take along profiled genes without mutations in it's calculation. According to the results view the actual mutation rate is 24% as there are multiple samples in the second study that are profiled but do not have mutations.

Study view of combined study with 100% mutation counts. See bottom of image.

image

Results view of IPO13 gene with 24% mutation rate

image

@inodb
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inodb commented Aug 30, 2024

@haynescd let's see if this is sovled in the clickhouse implementation

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3 participants