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Advancements in long-read genome sequencing technologies and algorithms
Genomics ( IF 4.4 ) Pub Date : 2024-04-11 , DOI: 10.1016/j.ygeno.2024.110842
Elena Espinosa , Rocio Bautista , Rafael Larrosa , Oscar Plata

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, whole-genome assembly still presents significant challenges related to the quality of the results. Pursuing 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.

中文翻译:

长读长基因组测序技术和算法的进步

最近出现的长读长测序技术,例如 Pacific Biosciences (PacBio) 和 Oxford Nanopore 技术 (ONT),极大地提高了基因组测序的准确性和计算成本。然而,全基因组组装仍然面临与结果质量相关的重大挑战。追求全基因组组装仍然是一项艰巨的挑战,围绕计算需求和结果质量的复杂考虑强调了这一点。随着测序准确性和通量的稳步提高,创新的组装工具源源不断地涌入该领域。驾驭这种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长读长测序技术、组装方法和不断发展的基因组学领域之间复杂的相互作用。我们专注于解决关键挑战并利用这些进步带来的机遇,深入探讨影响选择最佳策略以实现稳健和富有洞察力的基因组组装的关键因素。
更新日期:2024-04-11
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