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Identification of Hb Lepore, Hb anti-Lepore, and α-globin gene triplications by long-read single-molecule real-time sequencing.

An-Ping XuYinghui YeYueying HuangYun HuangHui GuoLing Ji
Published in: American journal of clinical pathology (2023)
Conventional methods may overlook rare thalassemias or Hb variants. Long-read SMRT sequencing has the potential to identify breakpoints in fusion genes, demonstrating that it is a promising technique for detecting rare thalassemias.
Keyphrases
  • single molecule
  • copy number
  • genome wide
  • single cell
  • atomic force microscopy
  • genome wide identification
  • bioinformatics analysis
  • living cells
  • genome wide analysis
  • dna methylation
  • transcription factor
  • human health