Department of Internal Medicine III, University of Heidelberg, Heidelberg 69120, Germany.
Biology (Basel). 2013 Mar 1;2(1):378-98. doi: 10.3390/biology2010378.
Within just a few years, the new methods for high-throughput next-generation sequencing have generated completely novel insights into the heritability and pathophysiology of human disease. In this review, we wish to highlight the benefits of the current state-of-the-art sequencing technologies for genetic and epigenetic research. We illustrate how these technologies help to constantly improve our understanding of genetic mechanisms in biological systems and summarize the progress made so far. This can be exemplified by the case of heritable heart muscle diseases, so-called cardiomyopathies. Here, next-generation sequencing is able to identify novel disease genes, and first clinical applications demonstrate the successful translation of this technology into personalized patient care.
在短短几年内，高通量下一代测序的新方法为人类疾病的遗传性和病理生理学提供了全新的见解。在这篇综述中，我们希望强调当前最先进的测序技术在遗传和表观遗传研究方面的优势。我们举例说明了这些技术如何帮助我们不断深化对生物系统中遗传机制的理解，并总结了迄今为止取得的进展。遗传性心肌疾病，即所谓的心肌病，就是一个很好的例子。在这种疾病中，下一代测序能够鉴定出新的疾病基因，而初步的临床应用表明，这项技术已经成功地转化为个性化的患者治疗。
