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Hum Mutat. 2013 Nov;34(11):1583-7. doi: 10.1002/humu.22400. Epub 2013 Sep 4.

Clinical applications of next-generation sequencing: the 2013 human genome variation society scientific meeting.

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University of Exeter Medical School, Exeter, United Kingdom.


Next-generation sequencing (NGS) has significantly contributed to the transformation of genomic research by providing access to the genome for analysis, by significantly decreasing the sequencing costs and increasing the throughput. The next goal is to exploit this powerful technology in the clinic, namely for diagnostics and therapeutics. The 2013 annual meeting of the Human Genome Variation Society, held in Paris, France, provided a forum to discuss possible clinical applications of NGS, the potential of some of the current NGS systems to transition to the clinic, the identification of causative mutations for rare genetic disorders through whole-genome or targeted genome resequencing, the application of NGS for family genomics, and NGS data analysis tools.


HGVS; NGS; clinical diagnostics; meeting report; next-generation sequencing

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