Strand bias and placement bias in variant calls
0
0
Entering edit mode
4 months ago
Carolyn • 0

I understand that to help distinguish correctly mapped variant reads, VCF Info filters for strand bias and placement bias can be used - in particular SAP (Strand balance probability for the alternate allele) and EPP (End Placement Probability) which are encoded as Phred-scaled estimates of the probability of deviation from the expected ratio of 0.5, with a suggested cutoff of >20. I am working to identify mutations from 150bp WGS reads from an intron rich, haploid eukaryotic GC rich algae using Freebayes to call variants, and, my control has a well supported and sequenced mutation which is eliminated by these filters, which had scores of 3.3935 for both measures. So a real, high quality variant would be eliminated.

Can you help me understand why this might be the case? Are these filters not appropriate for my data - and if so, why?

In case this helps the VCF data for the mutation is:

QUAL:   2587.33 . INFO: AB=0;ABP=0;AC=1;AF=1;AN=1;AO=51;CIGAR=1M1D3M;DP=51;DPB=40.8;DPRA=0;EPP=3.3935;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=60;MQMR=0;NS=1;NUMALT=1;ODDS=595.754;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3052;QR=0;RO=0;RPL=25;RPP=3.05288;RPPR=0;RPR=26;RUN=1;SAF=24;SAP=3.3935;SAR=27;SRF=0;SRP=0;SRR=0;TYPE=del;technology.ILLUMINA=1   GT:DP:AD:RO:QR:AO:QA:GL 1:51:0,51:0:0:51:3052:-261.674,0
Thank you!
Variant filter • 440 views
ADD COMMENT

Login before adding your answer.

Traffic: 4100 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6