Unconfigured Ad

Collapse
X
 
  • Time
  • Show
Clear All
new posts
  • drdna
    Member
    • May 2012
    • 76

    #1

    samtools mpileup bug

    It seems to me that the samtools indeed calling function is very buggy. Recently called indels on a dataset where all indels were reported with massive forward strand bias. Two output examples are shown here:

    Chr1 122767 . ACCC ACCCC 132.468 . INDEL;IDV=40;IMF=0.909091;DP=44;VDB=0.0700215;SGB=-0.692352;MQ0F=0;AF1=1;AC1=1;DP4=0,0,21,0;MQ=41;FQ=-999 GT:PL 1:170,63,0
    Chr1 122924 . TGGGG TGGGGG 76.4669 . INDEL;IDV=18;IMF=0.818182;DP=22;VDB=0.0508436;SGB=-0.676189;MQ0F=0;AF1=1;AC1=1;DP4=0,0,11,0;MQ=37;FQ=-999 GT:PL 1:114,33,0
    Direct interrogation of the reads revealed that there are plenty of reads from the reverse strand that support the indel. Therefore, we reverse-complemented the fastq dataset and re-called the exact same data mapped to the reverse strand. Again massive forward strand bias, despite the fact that the program had just called the reverse reads prior to them being reverse-complemented:

    Chr1 122767 . ACCC ACCCC 134.468 . INDEL;IDV=50;IMF=0.909091;DP=55;VDB=0.132339;SGB=-0.693021;MQ0F=0;AF1=1;AC1=1;DP4=0,0,27,0;MQ=42;FQ=-999 GT:PL 1:172,81,0
    Chr1 122924 . TGGGG TGGGGG 120.467 . INDEL;IDV=29;IMF=0.852941;DP=34;VDB=0.245878;SGB=-0.692352;MQSB=0.473684;MQ0F=0;AF1=1;AC1=1;DP4=0,0,19,2;MQ=37;FQ=-999 GT:PL 1:158,63,0
    Option runs were:
    Code:
    samtools mpileup -uf
    Code:
    bcftools --ploidy 1 -v -c
    samtools version 1.9

    I can't think of any possible option that would cause this behavior, so I'm suspecting a bug. Thoughts?

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
    ...
    10-14-2026, 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, 10-22-2026, 11:13 AM
0 responses
28 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 10-22-2026, 10:48 AM
0 responses
21 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 10-15-2026, 10:52 AM
0 responses
38 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 10-14-2026, 05:39 AM
0 responses
44 views
0 reactions
Last Post SEQadmin2  
Working...