Entering edit mode
9.4 years ago
Floris Brenk
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1.0k
Hi all, I'm analysing a few Haloplex exomes and after our standard GATK pipeline (not removing duplicates, due to haloplex exomes) I have a number of variants and frameshifts that I cannot find back in the bam files using IGV.
variant:
chr17 65850799 A/+TGAGACCGCACCAGCGACAC . BPTF frameshift
FORMAT GT:AD:DP:GQ:PL (GT = genotype, AD = Depth per allele, DP = Coverage, GQ = Genotype quality, PL = likelihood)
Sample12 0/1:26,8:34:99:174,0,4829
Sample13 0/1:21,61:82:99:1855,0,4174
Then I extract the region from the bam file because of the size:
samtools view -h -b Sample12_sorted_realign_recal.bam' chr17:65850000-65851799 > BPTF1_Sample12.bam
And when I visualize in IGV I don't see any frameshift at all?
Does anyone has an idea what is going wrong? and where it is going wrong?