Center for Applied Genomics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Abramson Research Center, Suite 1216E, Philadelphia, PA 19104, USA.
Pediatrics. 2012 Jun;129(6):1150-60. doi: 10.1542/peds.2011-3636. Epub 2012 May 7.
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.
在这篇综述中，我们讨论了基因组学研究的一些最新进展及其与儿科学领域的相关性。特别是，我们研究了目前用于识别疾病遗传相关性的 3 种主要方法：全基因组关联研究、拷贝数变异研究和新一代测序。在过去几年中，这些方法为广泛的疾病的病因和病理生理学提供了重要的见解，但也受到某些限制。这篇综述概述了复杂儿科疾病的基因组景观，并为将新发现转化为临床实践奠定了基础，即基因组医学的未来。
