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Journal: bioRxiv
Article Title: Single-cell variant landscape of the human mitochondrial genome reveals cell type-specific functions and disease mechanisms
doi: 10.64898/2026.10.11.758340
Figure Lengend Snippet: (a) Overview of the study including the development and validation of scMOCHA framework and large-scale discovery workflow for single-cell mtDNA variant analysis in human PBMC and BM samples. (b) Venn diagrams summarize the homoplasmic (purple), heteroplasmic (blue), and somatic (red) variants identified across PBMC and BM datasets. (c) Circos plots illustrate the genomic distribution and allele frequency (AF) of mtDNA variants across the mitochondrial genome in PBMC and BM. Tracks from outer to inner rings are: mitochondrial genome position (black), PhastCons100way conservation (yellow), population AF derived from gnomAD (black), sample frequency of homoplasmic variants (purple) and heteroplasmic variants (blue), the mitochondrial gene annotation map (middle), mean pseudobulk AF of homoplasmic variants (purple), heteroplasmic variants (blue), and somatic variants (red).
Article Snippet: The
Techniques: Biomarker Discovery, Single Cell, Variant Assay, Analysis, Derivative Assay