Fig. 4
From: Discovery and validation of autosomal dominant Alzheimer’s disease mutations
Algorithm to classify the benign or pathogenic nature of APP, PSEN1, and PSEN2 variants. This model is modified from the algorithm previously proposed by Guerreiro et al. in 2010 [4]. The modifications include the evaluation of variants in the Exome Variant Server and Exome Aggregation Consortium databases and a tiered approach to evaluating functional studies that more heavily weighs the impact of the variant on amyloid-β 1–42 peptide (Aβ42) and Aβ40 levels on pathogenicity