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Fig. 7 | Genome Biology

Fig. 7

From: GRIPT: a novel case-control analysis method for Mendelian disease gene discovery

Fig. 7

The impact of variant frequency filtering. The cutoff of variant filtering frequency was tested at 0.5%, 1%, and 2% under the AR model and at 0.01%, 0.5%, and 1% under the AD model. The percentage of patients carrying the RPE65 or TINF2 pathogenic mutations was set at 1%. The patient cohort size was 600. The control cohort size was 5000. The performance of GRIPT, VAAST2, CMC, SKAT, and KBAC are shown in red, blue, green, purple, and orange, respectively. a The ranking of RPE65 under the AR model. b The power of the five tests for RPE65. c The number of significant autosomal candidates under the AR model. d The ranking of TINF2 under the AD model. e The power of the five tests for TINF2. f The number of significant autosomal candidates under the AD model. The rankings of RPE65/TINF2 generated by GRIPT were compared to those generated by the other four methods respectively with one-tailed WRST. The methods that generated significantly worse ranking than GRIPT were marked with “*” if p value < 0.05, “**” if p value < 0.01, and “***” if p value < 0.001

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