Genotype-Phenotype Correlations in Autosomal Recessive Diseases

In autosomal dominant diseases, the analysis of genotype-phenotype correlations is comparatively simple because each affected individual carries only one disease-associated allele. While it would in principle be possible to restrict analysis to homozygotes (who carry two identical copies of the disease-associated allele, one each on the maternal and paternal chromosome), in practice compound heterozygotes are common and it is desirable to perform other comparisons.

For instance, one might compare the three groups missense/missense (homozygotes) against missense/nonse (compound heterozygotes)

and nonsense/nonsense (homozygotes) (see for example Li JT et al. (2022) <https://pubmed.ncbi.nlm.nih.gov/36303223/> for an example with the SUOX gene).

GPSEA implements a 6-field Fisher Exact Test to support this kind of analysis.

Tutorial

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