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DOI

  • Ernst Houtgast
Developments in sequencing technology have drastically reduced the cost of DNA sequencing. The raw sequencing data being generated requires processing through computationally demanding suites of bioinformatics algorithms called genomics pipelines. The greatly decreased cost of sequencing has resulted in its widespread adoption, and the amount of data that is being generated is increasing exponentially, projected to soon rival big data fields such as astronomy. Therefore, acceleration and optimization of such genomics pipelines is becoming increasingly important.

The BWA-MEM genomic mapping algorithm is a critical first step of many genomics pipelines, as it maps the raw input sequences onto a reference genome, thereby reconstructing the sample's original genetic assembly. A major part of overall BWA-MEM execution time is spent performing Seed Extension, an algorithm closely related to the Smith-Waterman pairwise sequence alignment algorithm. The standard approach for the heterogeneous acceleration of the Smith-Waterman algorithm is to map it onto a systolic array architecture to compute elements of the similarity matrix in parallel. In order for systolic arrays to operate at high efficiency, they require long sequences to be aligned to one another. The BWA-MEM algorithm, in contrast, typically generates very short sequences that then require pairwise alignment through the Seed Extension algorithm. Therefore, in this dissertation, various techniques to improve the efficiency of systolic arrays for short sequence lengths are proposed.

The Variable Logical Length, the Variable Physical Length, and the Variable Logical and Physical Length systolic array architectures are proposed to eliminate the dependence of systolic array efficiency on read sequence length. To eliminate its dependence on reference sequence length, a streaming, implicit synchronizing architecture is introduced. Together, these techniques result in a maximally-efficient systolic array. A Seed Extension kernel has been implemented on both FPGA and GPU with a threefold kernel-level improvement to execution time, resulting in the first FPGA-accelerated and the first GPU-accelerated implementation of BWA-MEM with an overall end-to-end twofold application-level speedup. Moreover, a Smith-Waterman implementation has been developed on FPGA using the above efficiency improvements to the systolic array architecture, resulting in an implementation that has a performance of 214 GCUPS and that is able to attain 99.8% efficiency, which is the highest reported efficiency and performance of any FPGA-accelerated Smith-Waterman implementation to date. Finally, various aspects of these designs are evaluated, including power-efficiency and design-time.
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
Supervisors/Advisors
Award date11 Nov 2019
Print ISBNs978-94-6366-203-1
DOIs
Publication statusPublished - 2019

    Research areas

  • Acceleration, BWA-MEM, FPGA, GPU, Heterogeneous system, Pairwise sequence alignment, Smith-Waterman, Systolic array

ID: 57327851