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. 2020 Apr 9;15(4):e0230587. doi: 10.1371/journal.pone.0230587

Fig 1. Phenogenon profiling workflow.

Fig 1

A) The distribution of frequency vs CADD Phred score for variants of a single gene were binned according to empirically chosen cut-offs. B) Variants within each binned area are further analysed. Individuals carrying these variants are identified and then filtered on the basis of whether they have a selected HPO term. C) Fisher’s Exact test is then used to determine the significance of the gene-phenotype relationship. D) A Phenogenon heatmap is produced using the Fisher Exact P-Values for each binned area. E) Fisher Exact Scores for each of the binned area in the first column are collapsed into a single HPO goodness of fit score (HGF) using a Scaled Stouffer transformation.