Hi
I was trying to do vcfeval to do the concordance between two vcf files. command line I used:
/hgsc_software/java/jdk1.8.0_74/bin/java -jar /hgsc_software/rtg-tools/rtg-tools-3.9.1/RTG.jar vcfeval --threads=1 --baseline=${FILEB}.vcf.gz --calls=${FILEA}.vcf.gz --template=/stornext/snfs5/next-gen/scratch/farek/misc/nist/sdf/GRCh38.SDF --output=${FILEB}-result --ref-overlap --decompose
found out that some matched variants (mostly INDELs) considered not concord and added into both fq.vcf.gz and fn.vcf.gz output files.
Then, out of curiosity, I even concord two exact the same vcf files, suprisingly, I didn't get 100% match, about 2K INDELs added into fp and fn output files, one finding is that these sites' reference concordance overlap with the other closeby called variants. Below is one example:
chr1 243972053 . CTCTTTCTTCTTTCTTTCTTTCTTTCTT CTCTT,C 215.02 PASS (this variant got into both fp and fn output files after vcfeval twe exact same vcf)
chr1 243972059 . C CT 16.08 PASS (this varinat also called, and consider match and concord)
Even though these two sites had reference overlap, I thouhght by using --ref-overlap, both should concord since I am vcfeval concording the two exact same vcf files.
Really need someone's help and come up with a solution. Thanks
Please contact Len Trigg at RTG: https://www.realtimegenomics.com/company/len-trigg