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what is Compound Heterozygous ?

YingLiuYingLiu ChinaMember

after I read that ,I got a question :
What is the difference between a biallelic mutation and compound heterozygous mutation?


  • SheilaSheila Broad InstituteMember, Broadie, Moderator admin


    I hope these examples will help.

    Suppose you have a site that has three possible alleles:

    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.


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