Figure 1

The -log ₁₀ p-values (y-axis) derived from testing associations of inferred de novo deletions and oral clefts, shown by chromosomal location (x-axis). Each point represents a de novo deletion CNV segment, delineated through MinimumDistance[44] (lower half) or PennCNV[43] (upper half). The dashed lines represent the genome-wide significance levels for a family-wise error rate of 5%, derived via permutation tests. The striped vertical bands indicate the 22 autosomes interrogated.