Towards a Next-Generation Sequencing Diagnostic Service for Tumour Genotyping: A Comparison of Panels and Platforms
Joint Authors
Burghel, George J.
Hurst, Carolyn D.
Watson, Christopher M.
Chambers, Phillip A.
Dickinson, Helen
Roberts, Paul
Knowles, Margaret A.
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-08-17
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Detection of clinically actionable mutations in diagnostic tumour specimens aids in the selection of targeted therapeutics.
With an ever increasing number of clinically significant mutations identified, tumour genetic diagnostics is moving from single to multigene analysis.
As it is still not feasible for routine diagnostic laboratories to perform sequencing of the entire cancer genome, our approach was to undertake targeted mutation detection.
To optimise our diagnostic workflow, we evaluated three target enrichment strategies using two next-generation sequencing (NGS) platforms (Illumina MiSeq and Ion PGM).
The target enrichment strategies were Fluidigm Access Array custom amplicon panel including 13 genes (MiSeq sequencing), the Oxford Gene Technologies (OGT) SureSeq Solid Tumour hybridisation panel including 60 genes (MiSeq sequencing), and an Ion AmpliSeq Cancer Hotspot Panel including 50 genes (Ion PGM sequencing).
DNA extracted from formalin-fixed paraffin-embedded (FFPE) blocks of eight previously characterised cancer cell lines was tested using the three panels.
Matching genomic DNA from fresh cultures of these cell lines was also tested using the custom Fluidigm panel and the OGT SureSeq Solid Tumour panel.
Each panel allowed mutation detection of core cancer genes including KRAS, BRAF, and EGFR.
Our results indicate that the panels enable accurate variant detection despite sequencing from FFPE DNA.
American Psychological Association (APA)
Burghel, George J.& Hurst, Carolyn D.& Watson, Christopher M.& Chambers, Phillip A.& Dickinson, Helen& Roberts, Paul…[et al.]. 2015. Towards a Next-Generation Sequencing Diagnostic Service for Tumour Genotyping: A Comparison of Panels and Platforms. BioMed Research International،Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1055626
Modern Language Association (MLA)
Burghel, George J.…[et al.]. Towards a Next-Generation Sequencing Diagnostic Service for Tumour Genotyping: A Comparison of Panels and Platforms. BioMed Research International No. 2015 (2015), pp.1-6.
https://search.emarefa.net/detail/BIM-1055626
American Medical Association (AMA)
Burghel, George J.& Hurst, Carolyn D.& Watson, Christopher M.& Chambers, Phillip A.& Dickinson, Helen& Roberts, Paul…[et al.]. Towards a Next-Generation Sequencing Diagnostic Service for Tumour Genotyping: A Comparison of Panels and Platforms. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1055626
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1055626