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Single-Mitochondrion Sequencing Uncovers Distinct Mutational Patterns and Heteroplasmy Landscape in Mouse Astrocytes and Neurons.

Parnika S KadamZijian YangYoutao LuHua ZhuYasemin AtiyasNishal ShahStephen FisherErik NordgrenJunhyong KimDavid IssadoreJames Eberwine
Published in: bioRxiv : the preprint server for biology (2024)
This study suggests that segregation as well as clonal expansion of mt-SNVs is specific to individual genomic loci, which is important foundational data in understanding of heteroplasmy and disease thresholds for mutation of pathogenic variants.
Keyphrases
  • mitochondrial dna
  • copy number
  • genome wide
  • single cell
  • spinal cord
  • dna methylation
  • artificial intelligence
  • genome wide association