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  • dnusol
    Senior Member
    • Jul 2009
    • 136

    #1

    Annotating INDELs with 1000g

    Hi,

    Using Samtools I have obtained a .vcf file with some variants, including INDELs. I am trying to compare them to 1000g for frequency, but I am finding difficulties trying to find the INDELs according to position.
    For example, Samtools detected the following deletion

    chr7 107052927 AACA AA

    when transforming this deletion to Annovar format, I get the following coordinates and nomenclature:

    chr7 107052929 107052930 CA -

    And I have manually found this deletion in the latest 1000g database as

    chr7 107052928 107052928 AC -

    So it is difficult to define a method to annotate this deletion that would be automatic for any INDEL, isn't it?

    Has anyone found a similar situation? how would people annotate INDELs using 1000g database?

    Apart from that, would you say that 1000g nomenclature is not appropriate for this deletion?

    Cheers,

    Dave

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