长线程基因组测序技术和算法的进步

IF 3 2区 生物学 Q2 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Genomics Pub Date : 2024-05-01 Epub Date: 2024-04-11 DOI:10.1016/j.ygeno.2024.110842
Elena Espinosa , Rocio Bautista , Rafael Larrosa , Oscar Plata
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引用次数: 0

摘要

近年来,太平洋生物科学公司(PacBio)和牛津纳米孔技术(ONT)等长读数测序技术的出现大大提高了基因组测序的准确性和计算成本。然而,从头全基因组组装在结果质量方面仍面临巨大挑战。进行从头全基因组组装仍然是一项艰巨的挑战,围绕着计算需求和结果质量的复杂考虑因素更凸显了这一点。随着测序精度和通量的稳步提高,创新的组装工具不断涌现。要驾驭这一动态领域,就必须合理选择测序平台、深度和组装工具,以协调高质量的基因组重建。本综述深入探讨了尖端长读测序技术、组装方法和不断发展的基因组学领域之间错综复杂的相互作用。我们将重点放在应对这些进步所带来的关键挑战和利用这些进步所带来的机遇上,深入探讨影响选择最佳策略的关键因素,以实现强大而有洞察力的基因组组装。
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Advancements in long-read genome sequencing technologies and algorithms

The recent advent of long read sequencing technologies, such as Pacific Biosciences (PacBio) and Oxford Nanopore technology (ONT), have led to substantial improvements in accuracy and computational cost in sequencing genomes. However, de novo whole-genome assembly still presents significant challenges related to the quality of the results. Pursuing de novo whole-genome assembly remains a formidable challenge, underscored by intricate considerations surrounding computational demands and result quality. As sequencing accuracy and throughput steadily advance, a continuous stream of innovative assembly tools floods the field. Navigating this dynamic landscape necessitates a reasonable choice of sequencing platform, depth, and assembly tools to orchestrate high-quality genome reconstructions. This comprehensive review delves into the intricate interplay between cutting-edge long read sequencing technologies, assembly methodologies, and the ever-evolving field of genomics. With a focus on addressing the pivotal challenges and harnessing the opportunities presented by these advancements, we provide an in-depth exploration of the crucial factors influencing the selection of optimal strategies for achieving robust and insightful genome assemblies.

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来源期刊
Genomics
Genomics 生物-生物工程与应用微生物
CiteScore
9.60
自引率
2.30%
发文量
260
审稿时长
60 days
期刊介绍: Genomics is a forum for describing the development of genome-scale technologies and their application to all areas of biological investigation. As a journal that has evolved with the field that carries its name, Genomics focuses on the development and application of cutting-edge methods, addressing fundamental questions with potential interest to a wide audience. Our aim is to publish the highest quality research and to provide authors with rapid, fair and accurate review and publication of manuscripts falling within our scope.
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