Nanopore Sequencing Technology and Tools for Genome Assembly: Computational Analysis of the Current State, Bottlenecks and Future Directions

TL;DR

This paper provides a comprehensive analysis of current nanopore sequencing analysis tools, identifying bottlenecks and offering guidelines to improve accuracy, performance, and scalability in genome assembly pipelines.

Contribution

It systematically evaluates existing tools for nanopore sequence analysis, highlighting their strengths, weaknesses, and tradeoffs, and offers practical guidelines for tool selection and development.

Findings

Identified key bottlenecks in current nanopore analysis tools

Analyzed tradeoffs between accuracy, performance, and memory usage

Provided guidelines for optimal tool selection in genome assembly

Abstract

Nanopore sequencing technology has the potential to render other sequencing technologies obsolete with its ability to generate long reads and provide portability. However, high error rates of the technology pose a challenge while generating accurate genome assemblies. The tools used for nanopore sequence analysis are of critical importance as they should overcome the high error rates of the technology. Our goal in this work is to comprehensively analyze current publicly available tools for nanopore sequence analysis to understand their advantages, disadvantages, and performance bottlenecks. It is important to understand where the current tools do not perform well to develop better tools. To this end, we 1) analyze the multiple steps and the associated tools in the genome assembly pipeline using nanopore sequence data, and 2) provide guidelines for determining the appropriate tools for each step. We analyze various combinations of different tools and expose the tradeoffs between accuracy, performance, memory usage and scalability. We conclude that our observations can guide researchers and practitioners in making conscious and effective choices for each step of the genome assembly pipeline using nanopore sequence data. Also, with the help of bottlenecks we have found, developers can improve the current tools or build new ones that are both accurate and fast, in order to overcome the high error rates of the nanopore sequencing technology.