Calling SNPs INDELs with SAMtools BCFtools

Calling SNPs INDELs with SAMtools BCFtools employs SAMtools 1.7 mpileup and BCFtools 1.8 call to call SNPs and INDELs

Quick Start

• To use Calling SNPs INDELs with SAMtools BCFtools, import your data in BAM format.
• Resources: SAMtools 1.7 manual, BCFtools 1.8 manual 

Test Data

Input File(s)

Use ex1.bam from the directory above as bam input and ex1.fa from the directory above as reference sequence.

Parameters Used in App

When the app is run in the Discovery Environment, use the following parameters with the above input file(s) to get the output provided in the next section below.

• Use these parameters within the DE app interface:
  • Set the mpileup output filename. 
  • Set the BCFtools call output filename and set the output file type to uncompressed VCF.
  • Leave all other parameters as default.

Output File(s)

The output file in the example data generated with these settings is  bcftools_1.8_call_output.vcf as output.

Tool Source for App

• http://www.htslib.org/doc/samtools-1.7.html
• https://samtools.github.io/bcftools/bcftools.html