New sequencing technologies are one of the most important technical advances in biology in the last 10 years. These technologies allow sequencing millions of DNA fragments in parallel, covering billions of bases in a short period of time. These techniques allowed discovering millions of variants, which functional and clinical value rest yet to be confirmed. This technology allows us to search new constitutional and somatic mutations in various samples in a short time. The complexity of data interpretation and size of data as well as the important investment needed to implement make these technologies to be present only in big institutions. The objective of this article is to present the different techniques, their associated technologies and to discuss their current applications.
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http://dx.doi.org/10.1684/bdc.2013.1717 | DOI Listing |
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