Table 1 Performance of the posterior score postLOF at distinguishing between LOF and non-LOF mechanisms using dominant single-phenotype genes

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

ClinVar P/LP variants

Min N of residues

N genes

AUROC

AUBPRC

All, with phenotype

3

172

0.889

0.874

All, with phenotype

5

112

0.927

0.910

All, with phenotype

10

47

0.937

0.911

>= 1-star, with phenotype

3

122

0.909

0.902

  1. The four conditions represent different stringency levels, including the number of unique residue positions (min N of residues) considered for the calculation of the EDC clustering metric or for ClinVar evidence assertion (star-rating). Area under the receiver operating characteristic curve (AUROC) and balanced precision-recall curve (AUBPRC) are shown. Source data are provided as a Source Data file.
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