Long-read human genome sequencing and its applications

Long-read human genome sequencing and its applications

长read的人类基因组测序及其应用

• Glennis A. Logsdon, 
• Mitchell R. Vollger & 
• Evan E. Eichler 

Nature Reviews Genetics volume 21, pages597–614(2020)Cite this article

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Abstract

Over the past decade, long-read, single-molecule DNA sequencing technologies have emerged as powerful players in genomics. With the ability to generate reads tens to thousands of kilobases in length with an accuracy approaching that of short-read sequencing technologies, these platforms have proven their ability to resolve some of the most challenging regions of the human genome, detect previously inaccessible structural variants and generate some of the first telomere-to-telomere assemblies of whole chromosomes. Long-read sequencing technologies will soon permit the routine assembly of diploid genomes, which will revolutionize genomics by revealing the full spectrum of human genetic variation, resolving some of the missing heritability and leading to the discovery of novel mechanisms of disease.

在过去的十年里，长期阅读的单分子DNA测序技术已经成为基因组学领域的强大参与者。
能够生成读取到成千上万的碱基长度的精度接近  短read测序技术,这些平台已经证明了他们的能力来解决一些最具挑战性的人类基因组区域,检测之前无法访问结构变异和产生第一批telomere-to-telomere组件的整个染色体。
长期测序技术将很快使二倍体基因组的常规组装成为可能，这将彻底改变基因组学，揭示人类遗传变异的全部光谱，解决一些缺失的遗传力，并导致疾病的新机制的发现。