Characterising and Predicting Haploinsufficiency in the Human Genome
Three ROC curves repesent the performance of three different methods for distinguishing between pathogenic deletions from DECIPHER and the most pathogenic deletions observed in control individuals. The blue curve denotes using LOD score calculated from predicted probability of exhibiting haploinsufficiency as the metric of pathogenicity. The green curve denotes using the number of genes deleted as the metric, in which case the most pathogenic deletion per individual is the one containing greatest number of genes in that individual. The red curve denotes using the size of deletion as the discriminating metric.