Unconfigured Ad

Collapse
X
 
  • Time
  • Show
Clear All
new posts
  • shuang
    Senior Member
    • Jul 2011
    • 100

    #1

    How to know which sequence contains the polymorphism?

    Below is the first polymorphic nt after pileup 2 sequences aligned to their ref genome. The file format is VCF. How do I know which sequence/file contains this polymorphism?



    #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT ab3.bam ab4.bam

    chr_6 40288765 . T C 79 . DP=2;AF1=1;AC1=4;DP4=0,0,2,0;MQ=60;FQ=-30.8 GT:PL:GQ 1/1:56,3,0:8 1/1:56,3,0:8
  • swbarnes2
    Senior Member
    • May 2008
    • 910

    #2
    The '1/1' in the ab3 column indicates that ab3 is predicted to be homozygous for the alternate letter there. If it said '0/1', that would mean a predicted heterozygote, '0/0' means the sample is predicted to be homozygous reference.

    However, in this particular case, the QUAL score, the QC score, and the DP4 are all so poor that you can't actually trust this call. It looks like each sample has a single read at this locus.

    Comment

    • shuang
      Senior Member
      • Jul 2011
      • 100

      #3
      Question 1.
      When I pileup 3 .bam files the same polymorphic nts' 'QUAL' is much lower than when I pileup 10 .bam files. The previous 3 files are also part of the later 10 files. Why?


      Question 2.
      Can I process multiple (Sanger) sequences at the same time from the beginning, instead of piling them up in the end? Here is a brief summary of my protocol.

      0. my data is from Sanger in .AB1 format.
      1. generate fastq from ab1 via Phred and a script.
      2. perform alignments via BWASW (better for read >200 bp. part of BWA package.)
      3. convert from sam to bam format via Samtools.
      4. pileup multiple alignment results via Samtools.

      Comment

      Latest Articles

      Collapse

      • kinpict.com
        Reply to 16S/ITS Profiling vs. Shotgun Metagenomics: What Changes in Your Workflow?
        by kinpict.com
        The part about this topic feels surprisingly grounded, and the details on the page is the bit that made me slow down. I’d keep <a href="https://kinpict.com/">ai family photo generator</a> bookmarked for later.
        Today, 06:37 PM
      • SEQadmin2
        16S/ITS Profiling vs. Shotgun Metagenomics: What Changes in Your Workflow?
        by SEQadmin2





        NGS has revolutionized clinical microbiology by offering new ways to identify and surveil pathogens without prior knowledge of the target. One popular approach is 16S rRNA and ITS amplicon sequencing, which targets specific microbial markers. But studies are increasingly incorporating shotgun metagenomics, a technique that sequences all DNA from a sample without targeting specific microbial markers. This approach allows more detailed taxonomic classification,...
        10-30-2026, 06:46 AM

      ad_right_rmr

      Collapse

      News

      Collapse

      Topics Statistics Last Post
      Started by SEQadmin2, 11-12-2026, 07:59 AM
      0 responses
      27 views
      0 reactions
      Last Post SEQadmin2  
      Started by SEQadmin2, 11-05-2026, 09:25 AM
      0 responses
      35 views
      0 reactions
      Last Post SEQadmin2  
      Started by SEQadmin2, 11-03-2026, 11:54 AM
      2 responses
      56 views
      0 reactions
      Last Post kinpict.com  
      Started by SEQadmin2, 10-28-2026, 09:57 AM
      0 responses
      175 views
      0 reactions
      Last Post SEQadmin2  
      Working...