Supplementary Figure 8: Quality control of NEK1 LOF and p.R261H SALS replication cohorts.
From: NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
Full NEK1 sequencing was performed for 2,387 SALS cases and 1,093 matched controls. p.Arg261His genotypes were obtained for 8,173 SALS cases and 5,189 controls (inclusive of 2,387 SALS cases and 1,093 controls with full NEK1 sequencing). Samples were excluded in the event of outlying heterozygosity (F <–0.1 or F >0.1), SNP-predicted and reported gender discrepancy, detectable relatedness to a sample from the FALS cohort or retained sample from SALS replication cohort (kinship coefficient >0.0884; ≤2rd-degree relationship), outlying ancestry as assessed by identity-by-state distance to the fifth nearest neighbor (>3 s.d. from group mean) or outlying ancestry as assessed by principal-components analysis (eigenvector value >4 s.d. from group mean along any of principal components 1–4).
