Extended Data Figure 9: Region‐based association tests using skatMeta for windows of 30 SNVs and window step of 20 SNVs.
From: Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture
a, Left, quantile–quantile plots for forearm (FA) BMD, femoral neck (FN) BMD, and lumbar spine (LS) BMD. For each MAF range considered (<5% or < 1%), analysis was conducted across all variants, variant overlapping coding exons, and variants with GERP++ score >1. b, Right, Manhattan plots forearm BMD, femoral neck BMD, and lumbar spine BMD. For each MAF range considered (<5% or < 1%), analysis was conducted across all variants, variant overlapping coding exons, and variants with GERP++ score >1. Blue lines indicate genome‐wide suggestive (P = 1.2 × 10−6) thresholds and red lines indicate genome‐wide significant (P = 1.2 × 10−8) thresholds.
