Author

Prasanth Potluri

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Open access Oct 2026

Single-cell variant landscape of the human mitochondrial genome reveals cell type-specific functions and disease mechanisms

Mitochondrial DNA (mtDNA) heteroplasmy is a significant source of cellular genetic diversity and can cause disease yet its distribution and functional importance across different human cell types are poorly understood. Here we present scMOCHA (Single-Cell Mitochondrial Omics for Cellular Heteroplasmy Analysis), a scala...

Chun-Jie Liu, Ting Peng, Zi-Mu Cen et al. · bioRxiv · 0 citations