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  • mutation detection but has to exclude known polymorphism?

    Recently got a project on human data. It is easy to find out all the mutations. But how do I exclude all the know Polymorphisms, any approach? Thanks!

  • #2
    A common approach is to annotate your results with the information from dbSNP, 1000 Genomes, Exome Variant Server .
    These databases have information on previously described SNPs and their frequency in several populations.
    You can download these databases and annotate your vcf files with them using snpSift annotate.

    cheers,
    Sophia

    Comment


    • #3
      Originally posted by sdvie View Post
      A common approach is to annotate your results with the information from dbSNP, 1000 Genomes, Exome Variant Server .
      These databases have information on previously described SNPs and their frequency in several populations.
      You can download these databases and annotate your vcf files with them using snpSift annotate.

      cheers,
      Sophia
      Thanks for your quick reply. You are really helpful!

      Comment

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