Seqanswers Leaderboard Ad

Collapse

Announcement

Collapse
No announcement yet.
X
 
  • Filter
  • Time
  • Show
Clear All
new posts

  • 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

  • #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


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

      Comment


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

        Comment


        • #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


          • #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

            • seqadmin
              Advancing Precision Medicine for Rare Diseases in Children
              by seqadmin




              Many organizations study rare diseases, but few have a mission as impactful as Rady Children’s Institute for Genomic Medicine (RCIGM). “We are all about changing outcomes for children,” explained Dr. Stephen Kingsmore, President and CEO of the group. The institute’s initial goal was to provide rapid diagnoses for critically ill children and shorten their diagnostic odyssey, a term used to describe the long and arduous process it takes patients to obtain an accurate...
              12-16-2024, 07:57 AM
            • seqadmin
              Recent Advances in Sequencing Technologies
              by seqadmin



              Innovations in next-generation sequencing technologies and techniques are driving more precise and comprehensive exploration of complex biological systems. Current advancements include improved accessibility for long-read sequencing and significant progress in single-cell and 3D genomics. This article explores some of the most impactful developments in the field over the past year.

              Long-Read Sequencing
              Long-read sequencing has seen remarkable advancements,...
              12-02-2024, 01:49 PM

            ad_right_rmr

            Collapse

            News

            Collapse

            Topics Statistics Last Post
            Started by seqadmin, 12-17-2024, 10:28 AM
            0 responses
            33 views
            0 likes
            Last Post seqadmin  
            Started by seqadmin, 12-13-2024, 08:24 AM
            0 responses
            48 views
            0 likes
            Last Post seqadmin  
            Started by seqadmin, 12-12-2024, 07:41 AM
            0 responses
            34 views
            0 likes
            Last Post seqadmin  
            Started by seqadmin, 12-11-2024, 07:45 AM
            0 responses
            46 views
            0 likes
            Last Post seqadmin  
            Working...
            X