Skip to content

Compound Heterozygote

Definition
AI-generated

A compound heterozygote carries two different pathogenic (or tested) alleles at the same gene—typically on opposite haplotypes (in trans)—so each chromosome copy bears a distinct variant.

Topics
Core genetics
Related
Genome-Wide Association Study (GWAS) Haplotype Heterozygote

Why it matters in GWAS

Routine SNP GWAS rarely phases recessive genes; sequencing and haplotype-aware pipelines matter for Mendelian interpretation and for burden tests that count two-hit genotypes. Mis-phasing can wrongly call two variants as cis.

Example usage

"Exome trios confirmed the patient was a compound heterozygote for two LoF alleles in the gene, not a single haplotype carrying both."

Genome-Wide Association Study (GWAS) Haplotype Heterozygote Loss-of-Function Variant Pedigree Phasing Recessive Genetic Model
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Bamshad MJ, et al. (2011). Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet.
← Complex trait Compute Cluster →

Last updated (UTC · Git history)