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Considerations for Subgroups and Phenocopies in Complex Disease Genetics

Figure 2

Allele frequency alterations due to the presence of a subgroup.

The difference in allele frequencies for a SNP considered classically (top) and as a complex disorder with subgroups (below). In the example, a hypothetical subgroup denoted Subclass 1 contains allele counts a1 and b1, while the rest of the cases contain allele counts a2 and b2.

Figure 2

doi: https://doi.org/10.1371/journal.pone.0071614.g002