New methodologies in the study of genetic diseases and their indications

M. G. Palacios-Verdú, Luis Perez-Jurado

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

The last two decades have seen very relevant developments of novel molecular technologies and analytical tools that have the capacity to study the almost entire genetic information of an individual at a progressively decreasing cost. Along with more traditional technologies focused on the specific analysis of one or a few regions of the genome, they provide a wide range of possibilities for the study of the molecular basis of disease. DNA microarrays and next generation sequencing are already being widely used as diagnostic tools in the prenatal and postnatal setting. The objective of this review is to briefly describe the battery of technological resources available, both traditional and new generation, and define their indications and applications in current clinical medicine

Translated title of the contributionNew methodologies in the study of genetic diseases and their indications
LanguageSpanish
Pages515-528
Number of pages14
JournalPediatria Integral
Volume18
Issue number8
Publication statusPublished - 1 Jan 2014
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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