Unconfigured Ad

Collapse
X
 
  • Time
  • Show
Clear All
new posts
  • fadista
    Member
    • Sep 2008
    • 37

    #1

    de novo assembly vs. reference assembly

    Hi,

    I would like to know if someone has experience in comparing a local de novo assembly to a reference assembly and measure which one is the best.

    I have mapped genomic Illumina reads to a reference genome. Then, since I'm interested in a 1Mb region of one of the chromosomes, I used a de novo assembler to assemble the reads that mapped to that 1Mb region. So now I have about 6000 contigs ranging in size from 500bp to 30kb and I would like to:
    1- visualize their position in relation to the original 1Mb region
    2- Be able to say that the de novo local assembly is better (or worse) than just to map my reads to the reference assembly.

    Many thanks
  • flxlex
    Moderator
    • Nov 2008
    • 412

    #2
    1 E.g. Mauve Contig Mover http://gel.ahabs.wisc.edu/mauve/
    2 What is your definition of 'better' and 'worse'?

    Comment

    • Michael.James.Clark
      Senior Member
      • Apr 2009
      • 207

      #3
      This is pretty much what Complete Genomics does. They align to the reference and identify positions where they detect a variant, then do local de novo assembly over the variant. It does seem to increase specificity in particular (by excluding potential false positives that disappear after de novo assembly).

      That said, having compared myself, it does not appear to be worth the effort for the relatively long reads you'll get off an Illumina given the computational expense of assembly because it doesn't really seem to increase sensitivity that much.
      Mendelian Disorder: A blogshare of random useful information for general public consumption. [Blog]
      Breakway: A Program to Identify Structural Variations in Genomic Data [Website] [Forum Post]
      Projects: U87MG whole genome sequence [Website] [Paper]

      Comment

      • fadista
        Member
        • Sep 2008
        • 37

        #4
        Thanks for the replies. I would look into the mauve tool.

        By being a 'better' local de novo assembly vs. reference assembly, I consider a region on the genome that has many SNPs, indels, etc. when mapped to a reference assembly. And so, it might be due to a hyper polymorphic region where the reference genome is very different from the sample DNA you are analyzing. In these circumstances I would choose a de novo local assembly.

        Now, the most important question is where do you define a threshold so as you consider a region with "many" variants? That is almost a rhetoric question I guess...

        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
          ...
          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, 10-15-2026, 10:52 AM
        0 responses
        16 views
        0 reactions
        Last Post SEQadmin2  
        Started by SEQadmin2, 10-14-2026, 05:39 AM
        0 responses
        21 views
        0 reactions
        Last Post SEQadmin2  
        Started by SEQadmin2, 10-13-2026, 09:56 AM
        0 responses
        22 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...