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Next-Generation Sequencing Approaches in Cancer: Where Have They Brought Us and Where Will They Take Us?
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Cancers 2015, 7(4), 2023-2036; doi:10.3390/cancers7040874

Next-Generation Sequencing in Clinical Molecular Diagnostics of Cancer: Advantages and Challenges

1
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 8515 Fannin Street, Houston, TX 77054, USA
2
Department of Pathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX-77030, USA
*
Author to whom correspondence should be addressed.
Academic Editors: Camile S. Farah and William Chi-shing Cho
Received: 24 June 2015 / Revised: 21 September 2015 / Accepted: 1 October 2015 / Published: 14 October 2015
(This article belongs to the Special Issue Next Generation Sequencing Approaches in Cancer)
View Full-Text   |   Download PDF [326 KB, uploaded 14 October 2015]   |  

Abstract

The application of next-generation sequencing (NGS) to characterize cancer genomes has resulted in the discovery of numerous genetic markers. Consequently, the number of markers that warrant routine screening in molecular diagnostic laboratories, often from limited tumor material, has increased. This increased demand has been difficult to manage by traditional low- and/or medium-throughput sequencing platforms. Massively parallel sequencing capabilities of NGS provide a much-needed alternative for mutation screening in multiple genes with a single low investment of DNA. However, implementation of NGS technologies, most of which are for research use only (RUO), in a diagnostic laboratory, needs extensive validation in order to establish Clinical Laboratory Improvement Amendments (CLIA) and College of American Pathologists (CAP)-compliant performance characteristics. Here, we have reviewed approaches for validation of NGS technology for routine screening of tumors. We discuss the criteria for selecting gene markers to include in the NGS panel and the deciding factors for selecting target capture approaches and sequencing platforms. We also discuss challenges in result reporting, storage and retrieval of the voluminous sequencing data and the future potential of clinical NGS. View Full-Text
Keywords: cancer genomics; next-generation sequencing; guidelines; molecular diagnostics; mutation cancer genomics; next-generation sequencing; guidelines; molecular diagnostics; mutation
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Luthra, R.; Chen, H.; Roy-Chowdhuri, S.; Singh, R.R. Next-Generation Sequencing in Clinical Molecular Diagnostics of Cancer: Advantages and Challenges. Cancers 2015, 7, 2023-2036.

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