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Clinical validation of a single NGS targeted panel pipeline using the KAPA HyperChoice system for detection of germline, somatic and mitochondrial sequence and copy number variants.

Jennifer KerkhofCassandra RastinLaila SchenkelHanxin LinBekim Sadikovic
Published in: Expert review of molecular diagnostics (2023)
Results of the laboratory quality improvement study focused on a single NGS pipeline that includes both nuclear and mitochondrial genomes demonstrated utility in the clinical setting to assess a range of referral reasons, necessary due to the complex molecular etiology of human genetic disorders, while reducing costs and turnaround times.
Keyphrases
  • copy number
  • mitochondrial dna
  • genome wide
  • quality improvement
  • oxidative stress
  • dna methylation
  • endothelial cells
  • primary care
  • gene expression
  • dna damage
  • patient safety