Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
Nat Rev Genet. 2020 Oct;21(10):597-614. doi: 10.1038/s41576-020-0236-x. Epub 2020 Jun 5.
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.
在过去的十年中，长读长、单分子 DNA 测序技术已成为基因组学领域的重要工具。这些平台能够生成数十到数千个碱基对的读长，且准确度可与短读长测序技术相媲美，已经证明了其能够解决人类基因组中一些最具挑战性的区域，检测以前无法访问的结构变体，并生成一些首个端粒到端粒的整条染色体组装。长读长测序技术很快将允许常规组装二倍体基因组，这将通过揭示人类遗传变异的全貌、解决部分遗传缺失以及发现疾病的新机制来彻底改变基因组学。
