最新的结构变异检测方法。

Newest Methods for Detecting Structural Variations.

机构信息

Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. Electronic address: https://twitter.com/@wouter_decoster.

Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.

出版信息

Trends Biotechnol. 2019 Sep;37(9):973-982. doi: 10.1016/j.tibtech.2019.02.003. Epub 2019 Mar 19.

DOI:10.1016/j.tibtech.2019.02.003

PMID:30902345

Abstract

A substantial amount of structural variation in the human genome remains uninvestigated due to the limitations of existing technologies, the presence of repetitive sequences, and the complexity of a diploid genome. New technologies have been developed, increasing resolution and appreciation of structural variation and how it affects human diversity and disease. The genetic etiology of most patients with complex disorders such as neurodegenerative brain diseases is not yet elucidated, complicating disease diagnosis, genetic counseling, and understanding of underlying pathological mechanisms needed to develop therapeutic interventions. Here, we focus on innovative progress and opportunities provided by the newest methods such as linked read sequencing, strand-specific sequencing, and long-read sequencing. Finally, we describe a strategy for generating a comprehensive catalog of structural variations across populations.

摘要

由于现有技术的限制、重复序列的存在以及二倍体基因组的复杂性，人类基因组中大量的结构变异仍未得到研究。新技术的发展提高了对结构变异及其如何影响人类多样性和疾病的分辨率和认识。大多数患有复杂疾病（如神经退行性脑部疾病）的患者的遗传病因尚未阐明，这使得疾病诊断、遗传咨询以及理解开发治疗干预所需的潜在病理机制变得复杂。在这里，我们重点介绍了最新方法（如连锁读取测序、链特异性测序和长读测序）提供的创新进展和机会。最后，我们描述了一种在人群中生成结构变异综合目录的策略。