Unconfigured Ad

Collapse
X
 
  • Filter
  • Time
  • Show
Clear All
new posts
  • ankit4035
    Junior Member
    • Mar 2017
    • 4

    SNP calling using samtools

    Hi all,

    I have RNA-seq paired-end data from Illumina and I am using BWA-mem for mapping and samtools for SNP calling. I wanted to understand and get your opinion regarding following.

    1. What is the criteria for calling the variant? Specifically, at a particular position, how many reads should contain variation for it to be called as a variant.
    I want to call variant at a position if it supported by more than 20% of reads at that position.

    What parameter can I use to achieve this.

    Any help is appreciated!!
  • SNPsaurus
    Registered Vendor
    • May 2013
    • 525

    #2
    You can filter your vcf for variants that fit your minor allele threshold with vcftools https://vcftools.github.io/man_latest.html

    From the docs:
    --non-ref-af <float>
    --max-non-ref-af <float>
    --non-ref-ac <integer>
    --max-non-ref-ac <integer>

    --non-ref-af-any <float>
    --max-non-ref-af-any <float>
    --non-ref-ac-any <integer>
    --max-non-ref-ac-any <integer>

    Include only sites with all Non-Reference (ALT) Allele Frequencies (af) or Counts (ac) within the range specified, and including the specified value. The default options require all alleles to meet the specified criteria, whereas the options appended with "any" require only one allele to meet the criteria. The Allele frequency is defined as the number of times an allele appears over all individuals at that site, divided by the total number of non-missing alleles at that site.
    Providing nextRAD genotyping and PacBio sequencing services. http://snpsaurus.com

    Comment

    • ankit4035
      Junior Member
      • Mar 2017
      • 4

      #3
      Thanks, for the help.

      I was thinking that I could restrict this during SNP calling and not after vcf file was generated. How dumb of me..

      Comment

      Latest Articles

      Collapse

      • SEQadmin2
        Nine Things a Sample Prep Scientist Thinks About Before Sequencing
        by SEQadmin2


        I’m not a sequencing expert. I’m a purification scientist who uses NGS to evaluate workflows my group develops. With this perspective, we think about the sample first and the NGS workflow second. The sequencer is an exceptionally honest reporter, but it can only report on what you give it, so whether you get clean, interpretable data from an NGS workflow is largely determined before you begin.


        Here are nine questions we think about, in roughly the order they matter, before...
        Yesterday, 07:11 AM
      • SEQadmin2
        From Collection to Sequencing: Why Sample Preparation and Preservation Define Sequencing Data
        by SEQadmin2


        Data variability is still an issue in sequencing technologies despite the advances in reproducibility and accuracy of these platforms. But the problem does not originate in the sequencing itself, but in the previous steps, before the sample reaches the sequencer.


        The first step is collection, followed by preservation and sample preparation for analysis. Most scientists overlook those steps, but not being careful might just be skewing the experiment’s results.
        ...
        06-02-2026, 10:05 AM
      • SEQadmin2
        Single-Cell Sequencing at an Inflection Point: Early Impacts of New Platforms and Emerging Trends
        by SEQadmin2


        With the launch of new single-cell sequencing platforms in 2026, the field stands at an exciting inflection point. This article surveys the most impactful advances in the field and discusses how they’re reshaping research in cancer, immunology, and beyond.


        Introduction

        Single-cell sequencing technologies have undergone remarkable advances over the past decade, transitioning from low-throughput experimental approaches to highly scalable platforms capable of...
        05-22-2026, 06:42 AM

      ad_right_rmr

      Collapse

      News

      Collapse

      Topics Statistics Last Post
      Started by SEQadmin2, 06-17-2026, 06:09 AM
      0 responses
      20 views
      0 reactions
      Last Post SEQadmin2  
      Started by SEQadmin2, 06-09-2026, 11:58 AM
      0 responses
      38 views
      0 reactions
      Last Post SEQadmin2  
      Started by SEQadmin2, 06-05-2026, 10:09 AM
      0 responses
      44 views
      0 reactions
      Last Post SEQadmin2  
      Started by SEQadmin2, 06-04-2026, 08:59 AM
      0 responses
      49 views
      0 reactions
      Last Post SEQadmin2  
      Working...