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  • lbragg
    Member
    • Sep 2009
    • 14

    Detecting SNPs with helioscope

    Hi forum,

    Just wondering - can anyone recommend an open source tool for SNP detection which uses helioscope reads against a genome assembly? Helicos say on their site that they will be making an alignment tool available soon - but it does not seem to be available just now.

    In addition - can anyone recommend tools for visualising the alignment and SNP call.

    Thanks in advance!
  • ramouz87
    Member
    • Oct 2009
    • 35

    #2
    Hi,
    the resequencing pipline that is part of the helisphere suite
    allows that it loads the sms files and give you a table with discovred SNP.
    if you have already aligned the reads you can directely use snpSniffer
    one other alternative is to use varscan on aligned reads aswell it works but you have a reduced list and there's a reduced list of overlapping SNP.

    for visualisation,
    I would recommend tablet & IGV

    Hope this will help

    Best,
    Ramzi
    Last edited by ramouz87; 08-25-2010, 05:27 AM.
    Research Scientist - Bioinformatics
    Sidra Medical and Research Center

    Comment

    • Lee Sam
      Member
      • Oct 2008
      • 57

      #3
      Isn't IndexDP available on the Heliosphere? You need to use an aligner that allows indels because of the characteristics of the Helicos sequencer (e.g. dark base incorporation).

      Comment

      • lbragg
        Member
        • Sep 2009
        • 14

        #4
        Thanks for the advice! I haven't worked with this platform before

        Comment

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