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Hugo J. 2011 Dec;5(1-4):1-12. doi: 10.1007/s11568-011-9156-3. Epub 2011 Oct 27.

Review of massively parallel DNA sequencing technologies.

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  • 1PHG Foundation, 2 Worts Causeway, Cambridge, CB1 8RN UK.


Since the development of technologies that can determine the base-pair sequence of DNA, the ability to sequence genes has contributed much to science and medicine. However, it has remained a relatively costly and laborious process, hindering its use as a routine biomedical tool. Recent times are seeing rapid developments in this field, both in the availability of novel sequencing platforms, as well as supporting technologies involved in processes such as targeting and data analysis. This is leading to significant reductions in the cost of sequencing a human genome and the potential for its use as a routine biomedical tool. This review is a snapshot of this rapidly moving field examining the current state of the art, forthcoming developments and some of the issues still to be resolved prior to the use of new sequencing technologies in routine clinical diagnosis.


Massively parallel; Next generation sequencing; Targeting

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