validation of pipeline for SV, SNV and repeat analysis
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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?
SV repeat SNV • 426 views
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