Fig. 1: Manhattan plots for the rare-variant aggregate association analysis using SKAT-O.
From: Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis
Results are shown for the analysis of H-aid (A), H-diff (B), H-noise (C), and H-both (D). In each Manhattan plot, blue dots represent the results for the analysis of predicted loss of function (pLoF) variants, while the red dots indicate the results for the combined analysis of pLoF, missense (\({\mbox{CADD}}\ge 20\)) and splice-region variants (\({\mbox{CADD}}\ge 20\)). The threshold for exome-wide significance (\(p < 2.5\times {10}^{-6}\)) is marked by a dashed gray line. Genes that achieved exome-wide significance in either analysis are annotated. Known Mendelian hearing loss genes are highlighted in black, known age-related hearing loss (ARHL) genes in green, and novel ARHL genes in red.
