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. 2021 Jan 27;12:627. doi: 10.1038/s41467-020-20852-3

Fig. 2. Sex-specific de novo burden analysis.

Fig. 2

a Burden of damaging de novo mutations (DNMs) (protein truncating variants (PTVs) + missense/inframe) in females versus males, per gene. Shown are the 23 X-linked genes that passed multiple-testing correction. The text colour indicates whether the gene was classed in the consensus of genes from the Developmental Disorders Gene-to-Phenotype list (DDG2P) and Online Mendelian Inheritance in Man (OMIM) (see ‘Methods’) as X-linked dominant only (orange), X-linked recessive only (green) or both/uncertain (blue). P-values for the genes under different tests are shown in Supplementary Data 3. b Burden of damaging (PTV + missense/inframe) DNMs for males and females in the indicated gene sets. p: p-value from upper-tailed Poisson test. fatt: attributable fraction for DNMs in this gene set. The colored bars show the point estimates and error bars show 95% confidence intervals calculated as described in the ‘Methods’.