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Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.

Sha HongLi WangDongying ZhaoYonghong ZhangYan ChenJintong TanLili LiangTianwen Zhu
Published in: Molecular genetics & genomic medicine (2019)
This study provides evidence that NGS can yield high success rates in a tertiary pediatric setting, but suggests that the scope of known Mendelian conditions may be considerably broader than currently recognized.
Keyphrases
  • pulmonary embolism
  • copy number
  • gene expression
  • young adults
  • circulating tumor