Unconfigured Ad

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

    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
              Proteomic Platforms: How to Choose the Right Analytical Strategy to Improve Detection and Clinical Applications
              by SEQadmin2


              Proteomics platforms are evolving rapidly, with advances in mass spectrometry and affinity-based approaches expanding what researchers can detect and at what scale. As the field moves toward deeper proteome coverage and clinical applications, scientists face an increasingly complex landscape of tools. This article will explore how researchers are navigating these choices to find the right platform for their work.

              The systematic characterization of the human proteome has
              ...
              07-20-2026, 11:48 AM
            • SEQadmin2
              Advanced Sequencing Platforms Tackle Neuroscience’s Toughest Genomics Problems
              by SEQadmin2



              Genomics studies in neuroscience face a special challenge due to the brain’s complexity and scarcity of samples. Mapping changes in cell type and state using conventional next-generation sequencing methods remains challenging. Advances in technologies like single-cell sequencing, spatial transcriptomics, and long-read sequencing have opened the door to deeper studies of the brain and diseases like Alzheimer’s, amyotrophic lateral sclerosis (ALS), and schizophrenia.
              ...
              07-09-2026, 11:10 AM
            • SEQadmin2
              Cancer Drug Resistance: The Lingering Barrier to Rising Survival
              by SEQadmin2



              Cancer survival rates have significantly increased in the last few decades in the United States, reaching a combined 70% 5-year survival rate by 2021. Behind this number, there are years of research to find new therapies, drug targets, and early detection methods. But there is one core challenge that keeps slowing down these advances, and it’s about drug resistance.

              There is no single reason why many patients don’t respond to treatment as expected. Cancer is...
              07-08-2026, 05:17 AM

            ad_right_rmr

            Collapse

            News

            Collapse

            Topics Statistics Last Post
            Started by SEQadmin2, 07-24-2026, 12:17 PM
            0 responses
            31 views
            0 reactions
            Last Post SEQadmin2  
            Started by SEQadmin2, 07-23-2026, 11:41 AM
            0 responses
            23 views
            0 reactions
            Last Post SEQadmin2  
            Started by SEQadmin2, 07-20-2026, 11:10 AM
            0 responses
            214 views
            0 reactions
            Last Post SEQadmin2  
            Started by SEQadmin2, 07-13-2026, 10:26 AM
            0 responses
            79 views
            0 reactions
            Last Post SEQadmin2  
            Working...