- 作者：Benjamí ; n Rodrí ; guez-Santiago ; benjamin.rodriguez@qgenomics.com ; Lluí ; s Armengol
- 关键词：Secuenciació ; n de nueva generació ; n ; Secuenciació ; n masiva ; Secuenciació ; n de exoma ; Diagnó ; stico prenatal ; Pruebas gené ; ticas ; Diagnó ; stico molecular
- 刊名：Diagn贸stico Prenatal
- 出版年：2012
- 期刊代码：pca115_21734127
- 类别：med
- 出版时间：April-June, 2012
- 卷：23
- 期：2
- 页码：56-66
- 文件大小：682 K
The development in the recent years of the so-called next generation sequencing technologies based on massive parallel methods currently allows the production of millions of DNA sequences at an unprecedented speed with an increasing reduced cost per nucleotide. These technologies are producing very significant scientific achievements, with the identification of new genes and the resolution of the genetic basis of Mendelian diseases at the forefront. The potential of this technology is being used to create new applications and biological tests that are soon going to revolutionise the pre- and postnatal diagnosis of genetic disorders. In this paper we provide a general overview of the technology, examining its advantages and disadvantages in comparison with conventional strategies, as well as some of the main applicactions, including prenatal diagnosis strategies aimed at detecting aneuploidies and deletion/duplication syndromes.