de Bruin Christiaan, Dauber Andrew
Cincinnati Children's Hospital Medical Center, Division of Endocrinology, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Nat Rev Endocrinol. 2015 Aug;11(8):455-64. doi: 10.1038/nrendo.2015.72. Epub 2015 May 12.
Whole-exome sequencing has emerged as a fast and effective tool for the elucidation of genetic defects underlying both rare and common human diseases. Increased availability and decreased costs of next-generation sequencing have enabled investigators to use this approach not only in individual patients with rare diseases, but also to screen large cohorts or populations for the genetic determinants of diseases. Within the field of endocrinology, exome sequencing has led to major advancements in our understanding of many disorders including adrenal disease, growth and puberty disorders and type 2 diabetes mellitus, as well as a multitude of rare genetic syndromes with prominent endocrine involvement. In this Review, we provide an overview of these new insights and discuss the role that exome sequencing is expected to have in endocrine research and future clinical practice.
全外显子组测序已成为一种快速有效的工具，用于阐明罕见和常见人类疾病背后的遗传缺陷。新一代测序技术的可用性提高和成本降低，使研究人员不仅能够在患有罕见疾病的个体患者中使用这种方法，还能够对大型队列或人群进行疾病遗传决定因素的筛查。在内分泌学领域，外显子组测序已使我们对许多疾病的理解取得了重大进展，包括肾上腺疾病、生长和青春期疾病以及2型糖尿病，以及许多有明显内分泌受累的罕见遗传综合征。在本综述中，我们概述了这些新见解，并讨论了外显子组测序在内分泌研究和未来临床实践中预期将发挥的作用。
