alexa Bringing Next-Generation Sequencing Oncology Tests into
ISSN 2469-9853

Journal of Next Generation Sequencing & Applications
Open Access

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Short Communication

Bringing Next-Generation Sequencing Oncology Tests into the Diagnostic Setting

Chee-Seng Ku*
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
*Corresponding Author : Chee-Seng Ku
Department of Medical Epidemiology and Biostatistics
Karolinska Institutet
Stockholm, Sweden
Tel: +46 8 31 11 01
E-mail: [email protected]
Rec date: Oct 5, 2015; Acc date: Jan 29, 2016; Pub date: Feb 1, 2016
Citation: Ku CS (2016) Bringing Next-Generation Sequencing Oncology Tests into the Diagnostic Setting. Next Generat Sequenc & Applic S1:004. doi:10.4172/2469-9853.S1-004
Copyright: © 2016 Ku CS. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Since the completion of the Human Genome Project (HGP) in 2003 and the appearance of the first next-generation sequencer (i.e. Roche 454 GS20) on the market, it has been widely anticipated that the rate of genomic discovery would increase exponentially. Genomic discovery in the context of human genetics encompasses the identification of new variants or mutations underlying human disease, from rare Mendelian disorders to common complex diseases including cancer, and pharmacogenomics for drug responses. It has been envisaged that these ‘disruptive technologies’ will eventually be translated into the diagnostic setting. Thus, the term ‘genomic medicine’ has been widely used to describe this rapidly evolving field i.e. applying genomic information in the context of furthering the clinical care of patients. Pharmacogenomics is that branch of genomic medicine that specializes in applying genomic information in the context of therapeutic decision-making.


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