Characterising and Predicting Haploinsufficiency in the Human Genome
The upper portion of the figure is a schematic demonstration of the calculation of the deletion-based LOD score. The contribution of genes with high p(HI) is accordingly weighted in a probabilistic way. The deletion with the largest LOD score in each individual is recorded and their distribution is shown in the lower portion of the figure. The distribution of maximal LOD scores of 2,322 control individuals are shown in green and the distribution of LOD scores of 487 pathogenic de novo deletions from DECIPHER are in red. Using the control distribution as the null, the probability a deletion is pathogenic can be assessed.