Single-cell variant landscape of the human mitochondrial genome reveals cell type-specific functions and disease mechanisms
Chunjie Liu, Ting Peng, Zimu Cen, Peiran Lu, Prasanth Potluri, Po Hu, Shiping Zhang, Marie T. Lott, Gabrielle Widjaja, Douglas C Wallace, Yi Xing, Liming Pei
The paper presents scMOCHA, a tool to analyze mtDNA heteroplasmy from scRNA-seq data, revealing cell type-specific mtDNA variants and disease mechanisms in hematopoietic cells.
bioRxiv · Oct 13, 2026 · PreprintGenetics