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

This repository contains code accompanying the following paper:

Omidsalar et al. "Common Mitochondrial Deletions in RNA-Seq: Evaluation of Bulk, Single-Cell, and Spatial Transcriptomic Datasets" [Link TBA]

Introduction

In the paper, Common Mitochondrial Deletions in RNA-Seq: Evaluation of Bulk, Single-Cell and Spatial Transcriptomic Datasets, we evaluated a variety of RNA-Seq datasets for common mitochondrial DNA (mtDNA) deletions using the bioinformatics tool Splice-Break2. The scripts within this repository were used for processing our data in conjunction with Splice-Break2.

We have also included RNA-Seq_SpliceBreak2_BestPractices.pdf to help guide users with workflow and command lines for running Splice-Break2 on RNA-Seq data.

Each directory contains README files with additional information and usage instructions.

Data_Availability_and_Accession

This directory contains references to the studies used in this paper and their corresponding accession information.

Processing_FASTQ_from_GEO

This directory contains two command-line scripts can be used to convert fastq files downloaded from GEO using default settings into a format that is suitable for Splice-Break2, and will run Splice-Break2 when executed. ProcessSE_SRR_for_SB.sh can be run on single-end fastq files and ProcessPE_SRR_for_SB.sh can be run on paired-end fastq files.

Grep_for_Deletions

This directory contains two scripts that can be used to search for and isolate reads that contain the 8471-13449 mtDNA "Common Deletion" and the 6335-13999 mtDNA deletion, respectively.

10xSpatial_DataProcessing

This directory contains two scripts: one that can be used to split 10x Genomics bam files into cluster-specific bam files and another to extract barcodes from reads containing a 6335-13999 or 8471-13449 deletion.

Spatial_Processing_Seurat

This directory contains the R scripts used for Seurat clustering and tissue image annotation.

Contact

Audrey Omidsalar: aomidsal@usc.edu

Brooke Hjelm: bhjelm@usc.edu