Fig. 2: mLOF scores reveal the prevalence of molecular mechanisms at the phenotype level. | Nature Communications

Fig. 2: mLOF scores reveal the prevalence of molecular mechanisms at the phenotype level.

From: Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes

Fig. 2

a, b Distribution of mLOF scores for inheritance- and mechanism-based phenotype classifications (see Table 2 for the description of the abbreviations). N denotes the number of phenotypes in each group. Red line indicates the optimal mLOF score threshold. Boxes represent data within the 25th and 75th percentiles, the middle line is the median, the notches contain the 95% confidence interval of the median, and the whiskers extend to 1.5× the interquartile range. c The fractional composition of predicted mechanisms for phenotypes across the indicated categories. The predictions represent the highest-ranking posterior mechanism-specific score for each phenotype. N denotes the number of phenotypes in each group. Bar charts show the fraction of genes with both LOF and non-LOF (‘hybrid’) mechanisms, with 50/116 and 55/112 for multi-phenotype AD genes and AD/ARmixed genes, respectively. Error bars are 95% credible intervals calculated from a posterior distribution of fractions derived using the bootstrap estimates of the optimal mLOF threshold. Source data are provided as a Source Data file.

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