Test-drive the GATK tools and Best Practices pipelines on Terra

Check out this blog post to learn how you can get started with GATK and try out the pipelines in preconfigured workspaces (with a user-friendly interface!) without having to install anything.

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.


Sign In or Register to comment.