Single-nucleus ONT case-control sequencing of human post-mortem brain from frontotemporal dementia samples and controls

The goal of this study was to identify RNA-isoform dysregulation events in frontotemporal dementia (FTD). Single-nucleus long-read sequencing of cDNA was performed on 6 samples with FTD and 6 samples from neurologically normal brains. All samples were from human post-mortem brain, from the superior frontal gyrus. All FTD samples had progranulin-deficient FTD (GRN-FTD). 10x Genomics was used for single-nucleus barcoding and Oxford Nanopore Technologies was used for long-read sequencing. The same single-nucleus barcoding process was also used as input to short-read Illumina sequencing for cell-type identification and gene-expression analysis. The short-read data can be found at the Gene Expression Omnibus with accession number GSE250280.