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Genomic sequencing in clinical trials

Karen K Mestan1*, Leonard Ilkhanoff2, Samdeep Mouli3 and Simon Lin4

Author Affiliations

1 Department of Pediatrics, Division of Neonatology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA

2 Department of Medicine, Division of Cardiology, Section of Electrophysiology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA

3 Department of Radiology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA

4 Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, WI, USA

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Journal of Translational Medicine 2011, 9:222  doi:10.1186/1479-5876-9-222

Published: 30 December 2011


Human genome sequencing is the process by which the exact order of nucleic acid base pairs in the 24 human chromosomes is determined. Since the completion of the Human Genome Project in 2003, genomic sequencing is rapidly becoming a major part of our translational research efforts to understand and improve human health and disease. This article reviews the current and future directions of clinical research with respect to genomic sequencing, a technology that is just beginning to find its way into clinical trials both nationally and worldwide. We highlight the currently available types of genomic sequencing platforms, outline the advantages and disadvantages of each, and compare first- and next-generation techniques with respect to capabilities, quality, and cost. We describe the current geographical distributions and types of disease conditions in which these technologies are used, and how next-generation sequencing is strategically being incorporated into new and existing studies. Lastly, recent major breakthroughs and the ongoing challenges of using genomic sequencing in clinical research are discussed.

Clinical trial; DNA; sequencing; human genome; bioinformatics