Department of Laboratory Medicine and Molecular Diagnostics, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada.
Sunnybrook Research Institute, Biological Sciences, Odette Cancer Research Program, Toronto, Ontario, Canada.
Curr Protoc Hum Genet. 2020 Mar;105(1):e97. doi: 10.1002/cphg.97.
Our understanding of genetic disease(s) has increased exponentially since the completion of human genome sequencing and the development of numerous techniques to detect genetic variants. These techniques have not only allowed us to diagnose genetic disease, but in so doing, also provide increased understanding of the pathogenesis of these diseases to aid in developing appropriate therapeutic options. Additionally, the advent of next-generation or massively parallel sequencing (NGS/MPS) is increasingly being used in the clinical setting, as it can detect a number of abnormalities from point mutations to chromosomal rearrangements as well as aberrations within the transcriptome. In this article, we will discuss the use of multiple techniques that are used in genetic diagnosis. © 2020 by John Wiley & Sons, Inc.
自人类基因组测序完成和众多检测基因突变的技术发展以来，我们对遗传疾病的理解呈指数级增长。这些技术不仅使我们能够诊断遗传疾病，而且在诊断过程中，还增加了对这些疾病发病机制的了解，有助于开发合适的治疗选择。此外，下一代或大规模平行测序（NGS/MPS）的出现也越来越多地应用于临床，因为它可以检测到从点突变到染色体重排以及转录组内的异常等多种异常。在本文中，我们将讨论在遗传诊断中使用的多种技术。 版权所有©2020 年由 John Wiley & Sons, Inc. 所有。
