epi2me-labs / wf-somatic-variation

Other
15 stars 8 forks source link

VAF threshold in tumor only mode #39

Open flokraft85 opened 1 month ago

flokraft85 commented 1 month ago

Ask away!

Hi, I would like to ask, if there is a VAF threshold in the tumor only mode. We currently analyze tumor sample in parallel with exome sequencing (~130x) and nanopore sequencing (95x) and compare the results. Unfortunately some of the pathogenic variants in the tumor are missing the wf-somatic-variation VCF, although there are clearly visible when checking the data in IGV. The missing variants show a low VAF (0.15 and 0.05) and that why I wonder, if there is maybe a threshold for the VAF. Thanks in advance! Florian