Epigenetics and Development Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Australia.
Department of Medical Biology, The University of Melbourne, Parkville, 3010, Australia.
Genome Biol. 2020 Feb 7;21(1):30. doi: 10.1186/s13059-020-1935-5.
Long-read technologies are overcoming early limitations in accuracy and throughput, broadening their application domains in genomics. Dedicated analysis tools that take into account the characteristics of long-read data are thus required, but the fast pace of development of such tools can be overwhelming. To assist in the design and analysis of long-read sequencing projects, we review the current landscape of available tools and present an online interactive database, long-read-tools.org, to facilitate their browsing. We further focus on the principles of error correction, base modification detection, and long-read transcriptomics analysis and highlight the challenges that remain.
长读测序技术正在克服早期精度和通量方面的限制，拓宽其在基因组学中的应用领域。因此，需要专门的分析工具来考虑长读数据的特点，但这些工具的快速发展可能令人应接不暇。为了协助长读测序项目的设计和分析，我们综述了当前可用工具的现状，并提供了一个在线交互式数据库 long-read-tools.org，以方便浏览。我们进一步关注错误纠正、碱基修饰检测和长读转录组学分析的原理，并强调仍然存在的挑战。
