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Fig. 4 | Alzheimer's Research & Therapy

Fig. 4

From: Discovery and validation of autosomal dominant Alzheimer’s disease mutations

Fig. 4

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

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