Extended Data Fig. 2: Mutation plots for genes identified in rare single variant or URV burden analyses.
From: Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis
The upper panel shows the coding sequence of the respective genes, with the y-axis showing the −log10(P-value) for single variants. The lower panel shows the whole-gene domains colored by the −log10(P-value). Only variants and genes supported by replication are displayed. For variants identified in the rare single variant analysis, all variants with MAF < 0.05 are displayed; for genes identified in the URV burden analysis URVs are displayed (≤5 carriers). Association statistics were estimated using Firth’s logistic regression with profile penalized likelihood confidence intervals. P-values for the gene-based and domain-based tests are from the ACAT omnibus test combining the four variant filtering strategies (see Methods). P-values shown are from two-tailed tests and are presented uncorrected for multiple testing.
