Common Mitochondrial Deletions in RNA-Seq: Evaluation of Bulk, Single-Cell and Spatial Transcriptomic Datasets

To investigate whether large mitochondrial DNA (mtDNA) deletions can be quantified and detected using the high-throughput bioinformatics tool Splice-Break (https://github.com/brookehjelm/Splice-Break2). This dataset contains 8 human middle temporal gyrus (MTG) samples (from 4 patients) that underwent spatial transcriptomic RNA-Sequencing following 10x Genomics visium protocols as well as 2 samples (from spatial transcriptomics patient 144107/144108) that underwent bulk RNA-Sequencing (one with a ribosomal depletion library preparation and one without). 10x Visium spatial transcriptomics profiles of middle temporal gyrus tissue taken from 4 patient samples (two tissue sections of each), consisting of 2 controls, 1 Alzheimer's Disease (AD), and 1 Parkinson's Disease (PD). Bulk RNA-Sequencing of one patient with no neurodegenerative diagnosis was included for methods comparison.