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Figure 1 | Alzheimer's Research & Therapy

Figure 1

From: Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

Figure 1

Schematic of the study design. Pooled-DNA sequencing was performed in a single DNA pool of 172 individuals to identify known pathogenic or novel functional variants by using Illumina HiSeq 2000. The SPLINTER software was used to call the variants. High-confident variants were selected for Sequenom genotyping. For those validated functional variants, follow-up genotyping was performed in large case-control series to infer and compare the frequencies. Segregation analysis was then performed to determine whether disease status segregates with risk alleles. Enzyme-linked immunosorbent assays (ELISAs) were used to evaluate the impact of novel GRN splice-site mutation on the changes of GRN plasma levels. GRN, progranulin; SPLINTER, short indel prediction by large deviation inference and nonlinear true frequency estimation by recursion.

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Alzheimer's Research & Therapy

ISSN: 1758-9193