Hi everyone
I used bwa, samtools, and bcftools for exome sequencing analysis to generate vcf. Want to know whether this is still correct and okay, and how this is different from GATK pipeline?
Thanks
Hi everyone
I used bwa, samtools, and bcftools for exome sequencing analysis to generate vcf. Want to know whether this is still correct and okay, and how this is different from GATK pipeline?
Thanks
To have better results I think you need to do the recalibration step.
as shown here http://www.htslib.org/workflow/
More:
Systematic comparison of variant calling pipelines using gold standard personal exome variants
Detailed comparison of two popular variant calling packages for exome and targeted exon studies
Validation and assessment of variant calling pipelines for next-generation sequencing
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Depends on how you've used these programs. Can you post some commands, particularly at the variant calling step?
From my experience, SAMtools/BCFtools is better for calling Sanger-confirmed SNVs than GATK, but not indels.