Unconfigured Ad

Collapse
X
 
  • Time
  • Show
Clear All
new posts
  • doublealice
    Member
    • Feb 2011
    • 24

    #1

    call indel and SNP by varscan

    Hi all,

    I met problem when I work on a 7M bacterium genome. I mapped 140x of paired-end reads (151x2) from illumina to a Pacbio reference genome by BWA mem. Then used samtool to get a mpileup file. Finally using varscan to call indel and SNP. Below is commands I used:

    map:
    $bwa mem -M -t 6 Pacbio_ref reads_1.fq reads_2.fq | samtools view -buS - | samtools sort - illumina_paired_map_pacbio.sorted
    $samtools index illumina_paired_map_pacbio.sorted.bam
    [/CODE]

    get mpileup
    Code:
    $samtools mpileup -f Pacbio_ref.fastq illumina_paired_map_pacbio.sorted.bam > mpileup_output
    call SNP
    Code:
    java -Xmx6g -Djava.io.tmpdir=temp -jar VarScan.v2.3.9.jar  \
    mpileup2snp mpileup_output \
    --min-coverage 20  \
    --min-reads2 2 \
    --min-avg-.01 \
    --p-value 0.05  \
    --output-vcf 1 > 05snp.vcf
    After that, I got only 268 SNP, similar work for indel but only 78 were found.

    I don't think those numbers should be so low. Would you please help to check if there is anything wrong on any step? I think maybe the parameters in BWA were not set correctly. Please help!

    Thanks!
  • Jane M
    Senior Member
    • Aug 2011
    • 239

    #2
    Don't know if it can solve your problem but you can try to add -B option to samtools mpileup, as discussed here for example:
    Details on the samtools mpileup command, base alignment quality (BAQ), multi-sample calling, and other features.

    Discussion of next-gen sequencing related bioinformatics: resources, algorithms, open source efforts, etc

    Comment

    Latest Articles

    Collapse

    • SEQadmin2
      Multiomic Liquid Biopsy: What DNA/RNA Panels Reveal That DNA Alone Can’t
      by SEQadmin2



      Tumors contain complex mixtures of cell populations that evolve in response to treatment and host-specific factors. Tissue biopsies provide only static snapshots of a tumor’s state. But what if we could follow that evolution over time using a minimally invasive technique?

      Liquid biopsies can detect tumor-derived material circulating in the bloodstream, providing a way to study treatment response, detect emerging resistance, and discover new biomarkers. Circulating
      ...
      Yesterday, 09:55 AM
    • SEQadmin2
      New Genomics Technologies Take Aim at Long-Standing Limits
      by SEQadmin2


      Researchers using sequencing and genomics tools often have to make trade-offs. They can choose between speed or scale, short reads or long-range information, or targeted panels or a view of the whole transcriptome. New technologies that have been released this year are built to address those tough choices.

      We asked six companies the same four questions to learn about their latest products. The new technologies bring a lot to the table, including rethinking sequencing
      ...
      09-28-2026, 10:25 AM

    ad_right_rmr

    Collapse

    News

    Collapse

    Topics Statistics Last Post
    Started by SEQadmin2, Today, 10:52 AM
    0 responses
    8 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, Yesterday, 05:39 AM
    0 responses
    17 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, 10-13-2026, 09:56 AM
    0 responses
    15 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, 10-09-2026, 11:14 AM
    0 responses
    27 views
    0 reactions
    Last Post SEQadmin2  
    Working...