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. 2014 Aug 8;111(34):12450–12455. doi: 10.1073/pnas.1412509111

Fig. 1.

Fig. 1.

Overview of sequence variants in CDH patients. (A) Number of validated rare and predicted pathogenic variants identified in human (Left) or mouse (Right) CDH-causing genes. Colors indicate the evidence level for pathogenicity. (B) Reported population frequencies in 1000 Genomes and NHLBI ESP datasets for each of the 116 validated variants. (C) Individuals (%) with multiple (1–4, pink shades) validated rare and predicted pathogenic variants in CDH-causing genes. (D) PCA on CDH cohort exomes (red), 1000 Genomes European population (green), and the remainder of the 1000 Genomes population (black). Blue box indicates the gate used to determine which samples were included in the enrichment analysis. (E–G) Enrichment analyses for CDH patients and control cohorts, showing the frequency of pathogenic variants in CDH genes (red dot) compared with 120 sets of random size-matched genes (box plot: upper bar, maximum; lower bar, minimum; box, upper and lower quartiles; center line, median). y axis indicates number of SD from the mean of the random gene sets.