Fig 8. Weight Multiparametric Score (WMMS) for homozygous mutations.

[A] A flowchart of the generation of weighted multiparametric scores (WMMS’s) for homozygous mutations. Data were assessed from twenty-four NKH patients with homozygous mutations and at least two score-able major symptomatic domains. Control data was from ten variants that were found in homozygous form of GLDC in the Exome Aggregation Consortium (ExAC) database (Broad Institute) and assigned COS of 0. [B] MMS parameters were weighted to maximize the correlation R²-value and yield the COS vs WMMS plot shown for a test set of 28 mutations (18 pathogenic, 10 nonpathogenic from the ExAC database).