The impact of genomics on pediatric research and medicine.

Pediatrics
John J Connolly, Hakon Hakonarson

Abstract

In this review, we discuss some of the most recent developments in genomics research and their relevance to the field of pediatrics. In particular, we examine 3 major approaches that are being used to identify genetic correlates of disease: genome-wide association studies, copy number variation studies, and next-generation sequencing. In the past few years, these approaches have yielded major insights into the causes and pathophysiology of a wide range of diseases but are also constrained by certain limitations. This review provides an overview of the genomic landscape in complex pediatric disorders and sets the stage for translating new discoveries into clinical practice, the future of genomic medicine.

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Citations

Feb 13, 2013·Pediatrics·Ruqayyah Abdul-KarimSara Chandros Hull
Nov 21, 2012·Pediatrics·John M Dagle, Jeffrey C Murray
Jun 26, 2014·Journal of the Formosan Medical Association = Taiwan Yi Zhi·Brian Hon-Yin ChungWinnie Wan-Yee Tso
May 29, 2018·The Journal of Law, Medicine & Ethics : a Journal of the American Society of Law, Medicine & Ethics·Maya Sabatello
Mar 1, 2013·Personalized Medicine·Jinchun SunLaura K Schnackenberg

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