Entering edit mode
2.3 years ago
ashkan
▴
160
I have built a pipeline for SV
, SNV
and repeat
analysis using WGS
data and I have used the pipeline for some of the datasets from our experiment that already I had. But I need to validate the pipeline.
I have another pipeline for detecting variants including SNP
and INDELs
. To validate this pipeline I used vcfeval
and as golden standard
I used NA12878
dataset (GIAB
). And then I will mostly look at sensitivity and precision.
So the questions are, for the new pipeline which performs SV
, SNV
and repeat
analysis:
1- can I used the same approach as variant calling pipeline?
2- if not, what tool can I use?
3- what data can I use as golden standard?
4- what criteria should be used to check the accuracy of the pipeline?