Question: SomaticSniper: Depth of reads supporting variant(s) in normal =0
gravatar for thestaroceanster
28 days ago by
thestaroceanster0 wrote:

When using somaticsniper for somatic mutations detection, the result showed that nearly all mutations identified by somaticsniper have Depth of reads supporting variant(s) in normal equal to 0. But when I double check the vcf file provided by the same command, it seems that there is actually some reads supporting variant in normal, which is shown as follows:

In somaticsniper format output: chr1 12888607 A M A 45 88 88 53 42 0 53 837 647 39 56 706 39 37 130 38 56 551 0 0 0

In vcf format output: chr1 12888607 . A C . . . GT:IGT:DP:DP4:BCOUNT:GQ:JGQ:VAQ:BQ:MQ:AMQ:SS:SSC 0/0:0/0:647:263,288,86,10:551,95,0,0:42:.:0:38:53:56:0:. 0/1:0/1:837:329,377,116,15:706,130,0,1:88:.:88:39,39:53:56,37:2:45

I think the reason for this is that the mean mapping quality for variant reads is 0. However, using IGV I can confirm that these variant reads have mapping quality>0 (some of them has high mapping quality).

So what could be the cause of this problem? Is there any difference between the "Mean mapping quality of reads supporting variant(s) in normal" and the mapping quality in bam files?

somaticsniper • 110 views
ADD COMMENTlink written 28 days ago by thestaroceanster0

Maybe check the sniper inputs - are there also base quality filters that might come into play?

ADD REPLYlink written 24 days ago by Chris Miller18k

I double check the input file and read the specific location with bam2R in deepSNV package. There are variant reads in normal tissue with quality above threshold.

ADD REPLYlink written 9 days ago by thestaroceanster0
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