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Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy.

Kun LengCathryn Rene CadwellW Patrick DevineTarik TihanZhongxia QiNilika S SinghalOrit A GlennSherry KamiyaArun P WiitaAmy C BergerJoseph T ShiehErron W TitusMercedes F ParedesVaibhav Upadhyay
Published in: Neurology. Genetics (2024)
snRNA-seq may be used to infer the cell-type specificity of mosaic chromosomal copy number changes and identify associated gene expression alterations, which in the case of chr1q gain may involve aberrations in cell migration. Future studies using spatial profiling could yield further insights on the molecular signatures of HPA.
Keyphrases
  • copy number
  • genome wide
  • cell migration
  • dna methylation
  • gene expression
  • mitochondrial dna
  • single cell
  • structural basis
  • rna seq
  • current status
  • case control
  • single molecule