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what is Compound Heterozygous ?

YingLiuYingLiu ChinaMember

HI,
http://gatkforums.broadinstitute.org/gatk/discussion/6455/biallelic-vs-multiallelic-sites
after I read that ,I got a question :
What is the difference between a biallelic mutation and compound heterozygous mutation?

Answers

  • SheilaSheila Broad InstituteMember, Broadie, Moderator admin

    @YingLiu
    Hi,

    I hope these examples will help.

    Suppose you have a site that has three possible alleles:

    REF ALT
    A T,G

    One sample which is biallelic het has genotype A/T. The other sample which is compound heterozygous is T/G. The compound heterozygous sample is heterozygous with two alternate alleles.

    If you google compound heterozygous, you should get some more helpful examples.

    -Sheila

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