TruSight oncology 500: enabling comprehensive genomic profiling and biomarker reporting with targeted sequencing

C Zhao, T Jiang, J Hyun Ju, S Zhang, J Tao, Y Fu… - BioRxiv, 2020 - biorxiv.org
Background As knowledge of mechanisms that drive the development of cancer grows,
there has been corresponding growth in therapies specific to a mechanism. While these …

[HTML][HTML] Diagnostic validation of a comprehensive targeted panel for broad mutational and biomarker analysis in solid tumors

G Froyen, E Geerdens, S Berden, B Cruys, B Maes - Cancers, 2022 - mdpi.com
Simple Summary The analysis of tumor-associated genetic variants and biomarkers is
critical for therapy choice, as specific mutations allow for a personalized treatment. Because …

[HTML][HTML] Comparison of actionable events detected in cancer genomes by whole-genome sequencing, in silico whole-exome and mutation panels

P Ramarao-Milne, O Kondrashova, AM Patch, K Nones… - ESMO open, 2022 - Elsevier
Background Next-generation sequencing is used in cancer research to identify somatic and
germline mutations, which can predict sensitivity or resistance to therapies, and may be a …

[HTML][HTML] Use of an integrated pan-cancer oncology enrichment next-generation sequencing assay to measure tumour mutational burden and detect clinically …

V Pestinger, M Smith, T Sillo, JM Findlay… - Molecular diagnosis & …, 2020 - Springer
Introduction The identification of tumour mutational burden (TMB) as a biomarker of
response to programmed cell death protein 1 (PD-1) immunotherapy has necessitated the …

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

JM Conroy, S Pabla, ST Glenn, RJ Seager… - Plos one, 2021 - journals.plos.org
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 …

[HTML][HTML] Automated next-generation profiling of genomic alterations in human cancers

LA Keefer, JR White, DE Wood, KMR Gerding… - Nature …, 2022 - nature.com
The lack of validated, distributed comprehensive genomic profiling assays for patients with
cancer inhibits access to precision oncology treatment. To address this, we describe elio …

[HTML][HTML] Clinical validation of the tempus xT next-generation targeted oncology sequencing assay

N Beaubier, R Tell, D Lau, JR Parsons, S Bush… - Oncotarget, 2019 - ncbi.nlm.nih.gov
We developed and clinically validated a hybrid capture next generation sequencing assay to
detect somatic alterations and microsatellite instability in solid tumors and hematologic …

[HTML][HTML] Beyond the variants: mutational patterns in next-generation sequencing data for cancer precision medicine

M Parilla, LL Ritterhouse - Frontiers in Cell and Developmental …, 2020 - frontiersin.org
Massively parallel sequencing, also referred to as “next-generation sequencing”(NGS)
provides not only information about simple, single nucleotide alterations, but it can also …

[HTML][HTML] Evaluation of an integrated clinical workflow for targeted next-generation sequencing of low-quality tumor DNA using a 51-gene enrichment panel

A Choudhary, E Mambo, T Sanford… - BMC medical …, 2014 - Springer
Background Improvements in both performance and cost for next-generation sequencing
(NGS) have spurred its rapid adoption for clinical applications. We designed and optimized …

Concordance study of a 520-gene next-generation sequencing-based genomic profiling assay of tissue and plasma samples

M Wang, X Chen, Y Dai, D Wu, F Liu, Z Yang… - Molecular Diagnosis & …, 2022 - Springer
Introduction Next-generation sequencing (NGS) enables simultaneous detection of
actionable somatic variants and estimation of genomic signatures such as tumor mutational …