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A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors
- 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.
- Subjects :
- Genomic profiling
Molecular biology
Computer science
Biochemistry
Turnaround time
Workflow
Sequencing techniques
Neoplasms
Basic Cancer Research
Breast Tumors
Medicine and Health Sciences
DNA libraries
DNA sequencing
Throughput (business)
Multidisciplinary
High-Throughput Nucleotide Sequencing
RNA sequencing
Genomics
Nucleic acids
Oncology
Scalability
Medicine
Microsatellite Instability
Transcriptome Analysis
Research Article
Next-Generation Sequencing
DNA Copy Number Variations
Science
Computational biology
Sensitivity and Specificity
Malignant Tumors
Cancer Genomics
Genomic Medicine
Breast Cancer
Genetics
Biomarkers, Tumor
Humans
Biology and life sciences
Sequence Analysis, RNA
Cancers and Neoplasms
Computational Biology
Genetic Variation
Reproducibility of Results
DNA
Genome Analysis
Research and analysis methods
Molecular biology techniques
Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 19326203
- Volume :
- 16
- Issue :
- 12
- Database :
- OpenAIRE
- Journal :
- PLoS ONE
- Accession number :
- edsair.doi.dedup.....04d975e900fb0eb83a476e52c655550f