CNV ClinSV filters - Githubissues

rtonda / caseSummarizer

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CNV ClinSV filters #6

Open gemmabv opened 1 year ago

gemmabv commented 1 year ago

In case AS5845 case summarizer reports only 3 CNVs in UCI list but actually, those 3 CNV are also in the AutismID and Autism SFARI gene lists but are not reported in case summarizer. /scratch/production/gbullich/NAGEN/casesummarizer/NAGENPEDIATRICS_90/NP245 Screenshot 2022-11-21 at 14 53 57

rtonda commented 1 year ago

I think it is the same issue than https://github.com/rtonda/caseSummarizer/issues/1. Good to have more examples, though