Skip to main content

Table 3 Summary of the enrichment scores for genes prioritized for keratoconus (KC) using a combination of CADD, GWAVA, and Eigen prediction tool

From: Functional relevance for central cornea thickness-associated genetic variants by using integrative analyses

Prediction tool Fold Enrichment FDR B&H
CADD 32.2 9.54E-03
GWAVA 23.9 8.17E-03
Eigen-PC 20.1 2.14E-02
CADD+GWAVA+Eigen-PC 77.9 8.68E-08
  1. Fold-enrichment was calculated as ((m/n)/(M/N), where m is the number of prioritized genes (with a tool or a combination of tools) belong to KC, n is the total number of genes prioritized using a tool (or a combination of tools), M is the total number of genes associated with KC, and N is the human genome background (around 20,000 genes). Enrichment P-values were calculated using probability density function, and the Benjamini-Hochberg procedure was used for multiple testing corrections