Clinical-Genomics-Lund / SomaticPanelPipeline

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Tnscope problem with the insertion AF and AD calcuation #67

Open sailepradh opened 2 months ago

sailepradh commented 2 months ago

Problem : In one of the paired normal analysis in MGP sample, clinically relevant FLT-ITD variant are missed in the analysis.

Insertion called from the tnscope have incorrectly calcuated the AF and AD which has caused to tagged the variant to be on further filtration of the vcf and incorrectly assigned "FAIL_NVAF" in clinically relevant variant from FLT3-internal tandem duplication and overall have caused the event to be missed from the presentation.