Long-read human genome sequencing and its applications.
Long-read human genome sequencing and its applications.
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DOI：
10.1038/s41576-020-0236-x
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发表时间：
2020-10
期刊：
影响因子：
--
通讯作者：
Eichler EE
中科院分区：
文献类型：
--
作者：
Logsdon GA;Vollger MR;Eichler EE
在过去的十年中，长读单分子DNA测序技术已经成为基因组学中的强大参与者。这些平台能够生成长度为数万至数千个碱基的读段，准确度接近短读段测序技术，已经证明它们能够解析人类基因组中一些最具挑战性的区域，检测以前无法获得的结构变体，并生成一些第一个完整染色体的端粒到端粒组装体。长读序测序技术将很快允许二倍体基因组的常规组装，这将通过揭示人类遗传变异的全谱，解决一些缺失的遗传性，并导致发现新的疾病机制来彻底改变基因组学。
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.
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