Reference Samples to Compare Next-Generation Sequencing Test Performance for Oncology Therapeutics and Diagnostics.

John D PfeiferRobert LobergCatherine Lofton-DayBarbara A Zehnbauer

Published in: American journal of clinical pathology (2021)

Genetically engineered cell lines and mutagenized sequence files are complementary reference samples for evaluating NGS test performance among clinical laboratories using LDTs. Variable accuracy in detection of genetic variants among some LDTs may identify different patient populations for targeted therapy.

Keyphrases

palliative care
case report
small molecule
copy number
loop mediated isothermal amplification
real time pcr
label free
circulating tumor
genome wide
cell free