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] 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 …

Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing

GM Frampton, A Fichtenholtz, GA Otto, K Wang… - Nature …, 2013 - nature.com
As more clinically relevant cancer genes are identified, comprehensive diagnostic
approaches are needed to match patients to therapies, raising the challenge of optimization …

High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing

N Wagle, MF Berger, MJ Davis, B Blumenstiel… - Cancer discovery, 2012 - AACR
Abstract Knowledge of “actionable” somatic genomic alterations present in each tumor (eg,
point mutations, small insertions/deletions, and copy-number alterations that direct …

Personalized genomic analyses for cancer mutation discovery and interpretation

S Jones, V Anagnostou, K Lytle, S Parpart-Li… - Science translational …, 2015 - science.org
Massively parallel sequencing approaches are beginning to be used clinically to
characterize individual patient tumors and to select therapies based on the identified …

[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] Analytical validation of clinical whole-genome and transcriptome sequencing of patient-derived tumors for reporting targetable variants in cancer

KO Wrzeszczynski, V Felice, A Abhyankar… - The Journal of Molecular …, 2018 - Elsevier
We developed and validated a clinical whole-genome and transcriptome sequencing
(WGTS) assay that provides a comprehensive genomic profile of a patient's tumor. The …

Comprehensive assay for the molecular profiling of cancer by target enrichment from formalin‐fixed paraffin‐embedded specimens

S Kohsaka, K Tatsuno, T Ueno, M Nagano… - Cancer …, 2019 - Wiley Online Library
Tumor molecular profiling is becoming a standard of care for patients with cancer, but the
optimal platform for cancer sequencing remains undetermined. We established a …

[HTML][HTML] Analytic validation of NeXT Dx™, a comprehensive genomic profiling assay

JS Saldivar, J Harris, E Ayash, M Hong, P Tandon… - Oncotarget, 2023 - ncbi.nlm.nih.gov
We describe the analytic validation of NeXT Dx, a comprehensive genomic profiling assay to
aid therapy and clinical trial selection for patients diagnosed with solid tumor cancers …

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 …