Unconfigured Ad

Collapse
X
 
  • Time
  • Show
Clear All
new posts
  • cometarossa
    Junior Member
    • Apr 2011
    • 5

    #1

    how to deal with adjoining SNPs?

    Dear All,
    I'm dealing with some sequencing data coming from an Illumina platform and assembled on a reference genome. We employed standard filters to reduce gaps (and therefore false mismatches), but still I'm finding numerous adjoining SNPs in the dataset. I'm afraid these could be artifacts caused by reads assembly; people in bibliography present some contrasting opinions, sometimes considering these kind of SNPs as regular (and valuable) data, some other times getting rid of them.
    What I'd like to ask you is if anybody supports biological reasons at the base of adjoining SNPs formations ore else if there is any filtering tool devoted to this problem. I could brutally eliminate these SNPs from the dataset, but maybe somebody came up with a more elegant way .
  • pmcget
    Member
    • Nov 2007
    • 28

    #2
    You could have a mixture of real and artifactual MNPs - so a brute force filtering of them wouldn't be advisable.

    Are you seeing a read-position bias to the adjacent SNPs? If you are then these could be a symptom of declining base quality at the end of reads. If so read trimming would remove this artifact e.g. using the bwa aln -q option.
    Once the position bias is eliminated then you could have some real MNPs remaining (multi-nucleotide polymorphisms).

    We have found some of these ourselves (validated by Sanger sequencing):


    Also see Rosenfeld et al 2010


    These MNPs can cause problems for mutation annotation software as usually they report the adjacent mutations separately - rather than the combined effect of both mutations on the codon.

    Comment

    • cometarossa
      Junior Member
      • Apr 2011
      • 5

      #3
      Thank you pmcget for the kind reply. That are some really interesting clues, I'll work in that direction to untangle this knot.
      Cheers!

      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...