Fig. 1
From: Mapping the genetic landscape of early-onset Alzheimer’s disease in a cohort of 36 families
Flowchart of the different analyses performed in this study. Patients with AD were ascertained from two clinical centers (Amsterdam Dementia Cohort and Erasmus MC) and from the Netherlands Brain Bank. Following the reconstruction of 36 pedigrees, various types of genetic data were assessed. Copy number variation in APP was tested using SNP array data or by targeted TaqMan assay. Prioritized candidate variants in novel genes were further investigated by replication in a larger cohort of AD patients. APOE genotypes and polygenic risk scores were computed for all individuals based on either (imputed) exome sequences or SNP arrays. Finally, all genetic data were reviewed to evaluate the genetic etiology of the families. Abbreviations: APOE apolipoprotein E, APP amyloid precursor protein, SNP single nucleotide polymorphism, VUS variant of uncertain significance