Unconfigured Ad

Collapse
X
 
  • Time
  • Show
Clear All
new posts
  • AJERYC
    Member
    • Jan 2012
    • 26

    #1

    how can I get the exome sequencing

    Sorry if this question may sound very simple, but I cant find the solution. I have a SAM file with an exome sequencing, all the short ILUMINA sequences aligned. I know how to get the variant file compared to a reference genome, but what I need is the whole exome sequence, not only the variants.
  • ymc
    Senior Member
    • Mar 2010
    • 496

    #2
    You can do --output_mode EMIT_ALL_SITES and then extract the sequence from there.

    However, the output is not phased. You can use ReadBackedPhasing in GATK to do the phasing but for now, it doesn't support indel. Anyone know of a better phasing tool??

    Comment

    Latest Articles

    Collapse

    • 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, detection...
      10-30-2026, 06:46 AM
    • 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

    ad_right_rmr

    Collapse

    News

    Collapse

    Topics Statistics Last Post
    Started by SEQadmin2, 10-28-2026, 09:57 AM
    0 responses
    33 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, 10-28-2026, 09:51 AM
    0 responses
    21 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, 10-22-2026, 11:13 AM
    0 responses
    71 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, 10-22-2026, 10:48 AM
    0 responses
    48 views
    0 reactions
    Last Post SEQadmin2  
    Working...