Unconfigured Ad

Collapse
X
 
  • Time
  • Show
Clear All
new posts
  • Kath
    Member
    • Nov 2010
    • 24

    #1

    Publicly available exome data

    Hi,

    I'm after some publicly available exome data from a trio in which there is a known de novo mutation. I'd like to run it through my pipeline just make sure I can rediscover the de novo variant.

    Does anyone know how to get such data? Fastqs or BAMs would be fine, as long as I know what has been done to them previously.

    Best wishes,

    Kath
  • GenoMax
    Senior Member
    • Feb 2008
    • 7142

    #2
    This seems to fit the bill: http://www.ebi.ac.uk/ena/data/view/SRP007298

    Comment

    • Kath
      Member
      • Nov 2010
      • 24

      #3
      Thanks - that does look promising.

      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,...
        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, Yesterday, 07:59 AM
      0 responses
      16 views
      0 reactions
      Last Post SEQadmin2  
      Started by SEQadmin2, 11-05-2026, 09:25 AM
      0 responses
      32 views
      0 reactions
      Last Post SEQadmin2  
      Started by SEQadmin2, 11-03-2026, 11:54 AM
      0 responses
      47 views
      0 reactions
      Last Post SEQadmin2  
      Started by SEQadmin2, 10-28-2026, 09:57 AM
      0 responses
      172 views
      0 reactions
      Last Post SEQadmin2  
      Working...