ArticlePloS one2021
A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors.
Article in PloS one, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 55 citations in OpenAlex.
- Trial
- Machine learning uncovers previously undetectable genetic deletions in cancer panel sequencing.NPJ precision oncology · 2026Article
- Laboratory-Developed NGS Panel for Characterization of Advanced Colorectal Cancer, Real-World Data from a Tertiary Referral Centre.Diagnostics (Basel, Switzerland) · 2026Article
- Machine Learning Algorithm for the Detection of Tumor Microsatellite Instability Based on Multiomics Biomarkers.JCO clinical cancer informatics · 2026Article
- Analytical and clinical validation of CancerMaster, an automated targeted NGS panel, for tumor-only precision oncology.Scientific reports · 2026Article
- Article
- Genomic innovations in cancer prevention, diagnosis, prognosis and precision therapeutics.Frontiers in genetics · 2026Review
- First Report of Entrectinib as a Treatment Option for Pure Squamous Cell Carcinoma HarboringInternational journal of molecular sciences · 2025Article
- Utilization of a Multi-modal Comprehensive Genomic and Immune Profiling Testing Strategy Results in a High Rate of Test Success and Detection of Clinically Relevant Biomarkers While Optimizing Tissue Usage.Molecular diagnosis & therapy · 2025Article
- Cell-Free DNA, Tumor Molecular Concordance, and Clinical Correlates of Patients with Cancer Treated in a Large Community Health Care Network.The Journal of molecular diagnostics : JMD · 2025Article
- RB1 expression and HR proficiency define a poor prognosis subtype of high grade serous ovarian cancer.Scientific reports · 2025Article
- Comprehensive genomic profiling of Taiwanese triple-negative breast cancer with a large targeted sequencing panel.Journal of the Chinese Medical Association : JCMA · 2025Article
- Advances in cancer genomics and precision oncology.Genes & genomics · 2025Review
- Comparison of next‑generation sequencing quality metrics and concordance in the detection of cancer‑specific molecular alterations between formalin‑fixed paraffin‑embedded and fresh‑frozen samples in comprehensive genomic profiling with the Illumina® TruSight Oncology 500 assay.Experimental and therapeutic medicine · 2025Article
- RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenicFrontiers in genetics · 2025Article
- Clinical and Technical Validation of OncoIndxCancers · 2024Article
- A consensus-based classification workflow to determine genetically inferred ancestry from comprehensive genomic profiling of patients with solid tumors.Briefings in bioinformatics · 2024Article
- From Crypts to Cancer: A Holistic Perspective on Colorectal Carcinogenesis and Therapeutic Strategies.International journal of molecular sciences · 2024Review
- Cancer/testis antigen expression and co-expression patterns in gastroesophageal adenocarcinoma.Medical oncology (Northwood, London, England) · 2024Article
- Cancer/testis antigen expression and co-expression patterns in Gastroesophageal Adenocarcinoma.Research square · 2024Article
Corrections and comments
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Authors and funding
17 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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 <7 days from specimen receipt to report. The results demonstrate that the scalable assay accurately and reproducibly detects small variants, copy number alterations, microsatellite instability (MSI) and tumor mutational burden (TMB) from 40ng DNA, and multiple gene fusions, including known and unknown partners and splice variants from 20ng RNA. 717 tumor samples and reference materials with previously known alterations in 96 cancer-related genes were sequenced to evaluate assay performance. All variant classes were reliably detected at consistent and reportable variant allele percentages with >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.
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