Jin et al performed pooled DNA sequencing with APP, PSEN1, PSEN2, progranulin (PGRN) and microtubule-associated Tau protein (MAPT) genes that was applied in a large population for monitoring rare human-specific mutations.192 Samples were collected from selected groups of patients and pooled in complex mixtures with negative control samples (validated as wild-type alleles). The mixes were then sequenced by NGS analyzers. The sequencing data were mapped back to the sample and to the control as reference. The pooled sequencing analysis detected PGRN and MAPT mutations in patients with clinically diagnosed AD. These findings show that the clinical phenotype of amnesic frontotemporal dementia and that of AD may be similar, and the overlapping symptoms can result in difficulties in the disease diagnosis. Complex genetic analysis might improve the diagnosis of neurodegenerative disorders.192,193
