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  • Pedigree checking from exome data

    Hi,

    Can anyone recommend a tool for checking that samples within the same family are not mislabelled using their exome sequencing data. I'm sure there must be a tool which takes in vcfs and ped files and can tell you whether the number of Mendelian inconsistences indicate sample mix-up.

    Thanks in advance,

    Kath

  • #2
    GATK SelectVariants allows you to feed it a Plink formatted PED file for e.g. de novo mutations. Abnormally high numbers are a good pointer for a sample mix up.

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