Genome Biology (Feb 2020)

Opportunities and challenges in long-read sequencing data analysis

  • Shanika L. Amarasinghe,
  • Shian Su,
  • Xueyi Dong,
  • Luke Zappia,
  • Matthew E. Ritchie,
  • Quentin Gouil

DOI
https://doi.org/10.1186/s13059-020-1935-5
Journal volume & issue
Vol. 21, no. 1
pp. 1 – 16

Abstract

Read online

Abstract 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.

Keywords