Supplementary Figure 4: Control–control analyses.
From: NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
To identify loci potentially subject to confounding bias in FALS RVB analyses, RVB analyses were performed across all known potential sources of heterogeneity in the FALS control cohort. This involved dividing controls into 28 distinct pseudo case–control groups on the basis of sequencing center and associated project to identify loci showing association with non-ALS-related data, population or phenotypic stratifiers. The y axis denotes P values observed during ALS-gene-trained RVB testing in FALS versus controls. The x axis denotes minimum P value observed during ALS-gene-trained RVB testing in the 28 pseudo case–control cohorts. Genes shown in gray achieve P < 1 × 10−3 for possible confounder association. Known and candidate ALS genes show no confounder association.
