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Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia.

Yu Jeong ChoiHongkyung KimWon Kee AhnSeung Tae LeeJung Woo HanJong Rak ChoiChuhl Joo LyuSeung Min HahnSaeam Shin
Published in: BMC medical genomics (2023)
Here, NGS played a critical role in definitive diagnosis in 18 out of 29 patients (62.07%) with suspected HHA. Thus, its incorporation into the diagnostic workflow is crucial.
Keyphrases
  • chronic kidney disease
  • cancer therapy
  • squamous cell carcinoma
  • gene expression
  • radiation therapy
  • drug delivery
  • circulating tumor
  • genome wide