ITADN

Missing somatic SNP in Pacbio RNA-seq data

#78ClosedYiqunCao 创建于 2025-11-23
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YiqunCaocommented
Hi, Thank you for this great tool. I'm encountering an issue while using DeepSomatic (v1.9.0) with either PACBIO or WES model_type parameter on PacBio RNA-seq data. The tool failed to call a somatic variant that Mutect2 independently confirmed on WES data from the same sample. Here is the corresponding entry from the DeepSomatic VCF output for that locus: (--model_type=PACBIO) chr21 43094667 . T C 0.4 RefCall . GT:GQ:DP:AD:VAF:PL ./.:11:1110:951,159:0.143243:0,10,33 (--model_type=WES) chr21 43094667 . T C 0 RefCall . GT:GQ:DP:AD:VAF:PL 0/0:26:1406:1192,214:0.152205:0,27,29 What might be causing this variant to be filtered as a RefCall? Additionally, are there any parameters or strategies I could use to recover such variants? Thank you!
关闭于 2025-12-15 3 条评论