MitoTrace

MitoTrace analyzes mitochondrial genetic variation in single-cell RNA sequencing (scRNAseq) data to detect mitochondrial variants and quantify heteroplasmy for studies of mitochondrial heterogeneity and disease-related mutations.

Key Features:

• Mitochondrial variant detection: Detects and recovers mitochondrial genetic variants directly from scRNAseq data.
• Polymorphism inference: Infers polymorphisms, including mitochondrial variants, from transcriptomic reads.
• Heteroplasmy handling: Accommodates mitochondrial heteroplasmies and the multi-copy, non-diploid nature of mtDNA.
• Implementation: Provided as an R package for computational analysis of mitochondrial variation.
• Validation across datasets: Demonstrated robustness by recovering genetic variants from several publicly accessible scRNAseq datasets and platforms.

Scientific Applications:

• Single-cell mitochondrial heterogeneity: Quantifies heteroplasmy and mtDNA variant distributions at single-cell resolution.
• Mitochondrial genetics in disease research: Supports investigation of mitochondrial genetic variation relevant to human diseases and cellular biology.
• Cross-platform variant recovery: Enables extraction of mtDNA variants from diverse scRNAseq datasets and sequencing platforms.

Methodology:

Implemented as an R package that infers mitochondrial polymorphisms and calls mitochondrial variants from scRNAseq data while accounting for heteroplasmy and multi-copy mtDNA; validated on publicly accessible datasets.