Extended Data Fig. 7: Breakdown of cases attributable to associations with ‘Posterior segment abnormalities’ by Specific Disease.
From: Genetic association analysis of 77,539 genomes reveals rare disease etiologies
For each gene associated with the Disease Sub Group ‘Posterior segment abnormalities’, a bar plot showing the number of cases having each of the different Specific Diseases who have an inferred pathogenic configuration of alleles in the gene. This example illustrates that sets of cases with the same etiological gene may be assigned different Specific Diseases. Consequently, pooling cases within Disease Sub Group can boost power.
