Somatic mtDNA single-nucleotide variants

Biomarker

1 paper1 finding

  • In silico1

Associations

1

Tissue- and cell type-specific mtDNA variation

mixedin humans1

1 study
  1. Somatic mtDNA single-nucleotide variants are associated with tissue- and cell type-specific mtDNA variation in humans.

    “somatic SNVs are tissue- and cell type-specific and distributed across the mtDNA genome”

    Humansperipheral blood mononuclear cells and bone marrow

    Human blood-forming cells show disease-linked DNA patterns

    bioRxiv13 Oct 2026Preprint

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bioRxiv

Human blood-forming cells show disease-linked DNA patterns

A computational analysis of existing human blood and bone marrow data mapped previously unknown cell-type-specific and disease-associated mitochondrial DNA variants.A computational analysis of existing human blood and bone marrow data mapped previously unknown cell-type-specific and disease-associated mitochondrial DNA variants.

Preprint: computational studyAI & data