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  • NGS data: append annotations from HGMD

    Hi all,

    Trying to give sense to the big amount of variants detected after exome sequencing, I was figuring out wether is it possible to append HGMD annotations to my VCF data in order to select only those with reported clinical impact.

    I've purchased a copy of HGMD pro.

    Thank you in advance,

    Best

    Luis

  • #2
    Have you tried to contact BioBase tech support? Since you are referring to a commercial product not many on this forum are likely to have access to HGMD pro.

    Comment


    • #3
      Maybe I should do that, but I was confident to get a quickier answer in this forum.

      I'll try it!

      Thanks,

      Luis

      Comment


      • #4
        Hgmd

        If you purchased HGMD Professional download version you get the data and can work with e.g. VCF files. But not with the online version.

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