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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