Unconfigured Ad

Collapse
X
 
  • Time
  • Show
Clear All
new posts
  • mathew
    Member
    • Jan 2011
    • 81

    #1

    coomercial or open source tool for CNV from sequence data

    I was wondering if some one can point me to a commercial or open source tool to call SNPs as well Copy number variation from Illumina's sequencing data. Thanks.
    Mathew
  • SES
    Senior Member
    • Mar 2010
    • 275

    #2
    You might want to start by looking at the software page. Also, you might get more responses if you can refine your question.

    Comment

    • Jane M
      Senior Member
      • Aug 2011
      • 239

      #3
      Hi,
      You can try VarScan, it's a free software, which gives SNP, indel and CNV.
      Good luck,
      Jane

      Comment

      • brianp22
        Junior Member
        • Aug 2012
        • 1

        #4
        The GenomeStudio Software package comprises seven discrete application modules that enable you to conveniently compare data from different applications.

        Comment

        • shyam_la
          Member
          • Mar 2012
          • 97

          #5
          Originally posted by Jane M View Post
          Hi,
          You can try VarScan, it's a free software, which gives SNP, indel and CNV.
          Good luck,
          Jane
          I have a related question: Can the copy number algorithm of VarScan still be used if my tumor and normal data are sequenced to varying depths? Lets says mean tumor depth is 2.5 times mean normal depth.. Is it still useful? If so, how should I modify the command line?

          Comment

          • swNGS
            Member
            • Nov 2011
            • 83

            #6
            You might be better off with specific tools for certain aspects of he jobs hat you areatte,ping to do rather than looking for a 'one tool for all jobs, approach, which as far as I'm concerned doesn't really exist!
            For variant calling I would suggest looking at the Broad's V3 exome pipeline and working from there. In addition to the CNV suggestions from above, have a look at CONTRA

            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, Yesterday, 10:52 AM
            0 responses
            12 views
            0 reactions
            Last Post SEQadmin2  
            Started by SEQadmin2, 10-14-2026, 05:39 AM
            0 responses
            19 views
            0 reactions
            Last Post SEQadmin2  
            Started by SEQadmin2, 10-13-2026, 09:56 AM
            0 responses
            19 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...