Additional file 1 of Probability of Alzheimer’s disease based on common and rare genetic variants

Additional file 1 Supplemental Note 1 Estimate of distribution parameters with unscreened controls. Supplemental Note 2 Estimate of probability of disease by linear regression with logistic link function. Supplemental Note 3 Inclusion of rare variants in the probability. Supplemental Note 4 Inclusion of common variants of common with high effect. Supplemental Table 1 Mean and variance for the Alzheimer’s disease genetic risk scores. Supplementary Table 2 AD genome-wide significant SNPs (adopted from Andrewes et al 2020). Supplemental Figure 1 The comparison of the theoretical probability of disease using formulae (3), (5) with the probability of disease estimated by logistic regression of simulated genotypes. Supplemental Figure 2 Combined probability of AD calculated with 2% lifetime prevalence of AD, 10% prevalence of AD in 65+ age group, including probability due to presence of a rare variant. The effect size is set to OR=500 reflecting almost fully penetrant mutations in APP, PSEN1, and PSEN2 genes.