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A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors

Authors :
Shuang Gao
Blake Burgher
Shengle Zhang
Sean T. Glenn
Roger Klein
Vincent Giamo
Sarabjot Pabla
Melissa Mallon
Erik Van Roey
Jonathan Andreas
Yirong Wang
Paul DePietro
R J Seager
Mary Nesline
Felicia L. Lenzo
Yong Hee Lee
Jeffrey M. Conroy
Source :
PLoS ONE, Vol 16, Iss 12, p e0260089 (2021), PLoS ONE
Publication Year :
2021
Publisher :
Public Library of Science (PLoS), 2021.

Abstract

Timely and accurate identification of molecular alterations in solid tumors is essential for proper management of patients with advanced cancers. This has created a need for rapid, scalable comprehensive genomic profiling (CGP) systems that detect an increasing number of therapeutically-relevant variant types and molecular signatures. In this study, we assessed the analytical performance of the TruSight Oncology 500 High-Throughput assay for detection of somatic alterations from formalin-fixed paraffin-embedded tissue specimens. In parallel, we developed supporting software and automated sample preparation systems designed to process up to 70 clinical samples in a single NovaSeq 6000TM sequencing run with a turnaround time of 99% overall accuracy and precision. Our results demonstrate that the high-throughput CGP assay is a reliable method for accurate detection of molecular alterations in support of precision therapeutics in oncology. The supporting systems and scalable workflow allow for efficient interpretation and prompt reporting of hundreds of patient cancer genomes per week with excellent analytical performance.

Details

Language :
English
ISSN :
19326203
Volume :
16
Issue :
12
Database :
OpenAIRE
Journal :
PLoS ONE
Accession number :
edsair.doi.dedup.....04d975e900fb0eb83a476e52c655550f