Supplementary Figure 8: Odds ratio comparison between ExAC-based CCR and gnomAD-based CCR for the ClinVar variant set. | Nature Genetics

Supplementary Figure 8: Odds ratio comparison between ExAC-based CCR and gnomAD-based CCR for the ClinVar variant set.

From: A map of constrained coding regions in the human genome

Supplementary Figure 8

True positives are 24,554 pathogenic variants and likely pathogenic variants from ClinVar. True negatives are 4,689 variants labeled as benign from ClinVar. For ExAC v1, the 95% confidence intervals are 0.021–0.028 for the 0–20 bin, 20.5–29.6 for the 20–80 bin, 9.09–20.0 for the 80–90 bin, 11.8–47.4 for the 90–95 bin, and 14.1–36.8 for the 95–100 bin. For gnomAD, the 95% confidence intervals are 0.015–0.023 for the 0–20 bin, 23.9–36.6 for the 20–80 bin, 14.6–45.4 for the 80–90 bin, 22.8–1151.0 for the 90–95 bin, and 40.4–647.5 for the 95–100 bin.

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