关键词: Genome assembly Hybrid assembly Long reads

Mesh : Algorithms High-Throughput Nucleotide Sequencing / methods Genomics / methods Sequence Analysis, DNA / methods Humans Whole Genome Sequencing / methods

来  源:   DOI:10.1016/j.ygeno.2024.110842

Abstract:
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.
摘要:
最近出现的长读取测序技术,例如太平洋生物科学(PacBio)和牛津纳米孔技术(ONT),已经导致测序基因组的准确性和计算成本的大幅改善。然而,从头全基因组组装仍然存在与结果质量相关的重大挑战。追求从头全基因组组装仍然是一个巨大的挑战,围绕计算需求和结果质量的复杂考虑因素强调了这一点。随着测序精度和通量稳步提高,源源不断的创新装配工具充斥着这个领域。驾驭这一动态景观需要合理选择测序平台,深度,和组装工具来协调高质量的基因组重建。这篇全面的综述深入探讨了尖端的长读测序技术之间的复杂相互作用,装配方法,以及不断发展的基因组学领域。专注于应对关键挑战并利用这些进步带来的机遇,我们对影响选择最佳策略的关键因素进行了深入的探索,以实现健壮和有见地的基因组组装。
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