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

CONCLUSIONS: 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.PMID:38037185 | DOI:10.1093/ajcp/aqad155
Source: American Journal of Clinical Pathology - Category: Pathology Authors: Source Type: research