Citation

Connolly JJ, Hakonarson H. Pediatrics 2012; 129(6): 1150-1160.

Affiliation

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; and.

Copyright

(Copyright © 2012, American Academy of Pediatrics)

DOI

10.1542/peds.2011-3636

PMID

22566424

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.

Language: en