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

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.Comment: To appear in Briefings in Bioinformatics (BIB), 201

A Modern Primer on Processing in Memory

Modern computing systems are overwhelmingly designed to move data to computation. This design choice goes directly against at least three key trends in computing that cause performance, scalability and energy bottlenecks: (1) data access is a key bottleneck as many important applications are increasingly data-intensive, and memory bandwidth and energy do not scale well, (2) energy consumption is a key limiter in almost all computing platforms, especially server and mobile systems, (3) data movement, especially off-chip to on-chip, is very expensive in terms of bandwidth, energy and latency, much more so than computation. These trends are especially severely-felt in the data-intensive server and energy-constrained mobile systems of today. At the same time, conventional memory technology is facing many technology scaling challenges in terms of reliability, energy, and performance. As a result, memory system architects are open to organizing memory in different ways and making it more intelligent, at the expense of higher cost. The emergence of 3D-stacked memory plus logic, the adoption of error correcting codes inside the latest DRAM chips, proliferation of different main memory standards and chips, specialized for different purposes (e.g., graphics, low-power, high bandwidth, low latency), and the necessity of designing new solutions to serious reliability and security issues, such as the RowHammer phenomenon, are an evidence of this trend. This chapter discusses recent research that aims to practically enable computation close to data, an approach we call processing-in-memory (PIM). PIM places computation mechanisms in or near where the data is stored (i.e., inside the memory chips, in the logic layer of 3D-stacked memory, or in the memory controllers), so that data movement between the computation units and memory is reduced or eliminated.Comment: arXiv admin note: substantial text overlap with arXiv:1903.0398