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  • lre1234
    Senior Member
    • Aug 2011
    • 110

    #1

    the "--heterozygosity" flag in GATK unifiedGenotyper

    Hi all,
    I am using the unifiedgenotyper and have a question about the "--heterozygosity" flag.

    The default is "0.001". Does this mean that at a particular site, if this percentage of bases is the alternate allele, then the site will be called a het? Also, is this based on each individual sample, or the combined for all samples together.

    Essentially, what I would like to do, is set a parameter in which a sample will be a het where at least 10% of the alleles are the alternate base, and to do this for each individual sample.

    as an example. I got this set of genotypes:
    GT:ADP:GQ:PL 0/0:86,15:96:56:0,56,3283 0/1:36,36:72:99:1111,0,1293

    These are at the same site. with ~17 of the sites being the alternate in the first sample, why is it being called as an "0/0".

    It is possible I am just not understanding some of the principal points of everything (and there are probably multiple questions here).

    Thanks for help...

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