Fig. 3: Burden of coding copy-number variants (CNVs) in spina bifida (SB) cases vs. controls. | Genetics in Medicine

Fig. 3: Burden of coding copy-number variants (CNVs) in spina bifida (SB) cases vs. controls.

From: Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida

Fig. 3

(a, b) Relative distributions of common and rare coding CNVs in the Qatar case–control cohort. (a) The frequency distribution of common coding CNVs does not significantly differ between cases and controls (P = 0.28). (b) In contrast, a significant enrichment of rare coding CNVs is observed in cases compared with controls (P = 6.75 × 10−7). (c–d) Common and rare coding CNV case–control comparison in the US cohort. (c) Common CNVs per genome distributions do not significantly differ in cases vs. controls (P = 0.34). (d) However, a significant enrichment of rare coding CNVs is found in cases compared with controls in this group (P = 7.59 × 10−4). MAF minor allele frequency.

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