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1.
IEEE/ACM Trans Comput Biol Bioinform ; 20(5): 3139-3153, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37018085

RESUMO

Sequence alignment pipelines for human genomes are an emerging workload that will dominate in the precision medicine field. BWA-MEM2 is a tool widely used in the scientific community to perform read mapping studies. In this paper, we port BWA-MEM2 to the AArch64 architecture using the ARMv8-A specification, and we compare the resulting version against an Intel Skylake system both in performance and in energy-to-solution. The porting effort entails numerous code modifications, since BWA-MEM2 implements certain kernels using x86_64 specific intrinsics, e.g., AVX-512. To adapt this code we use the recently introduced Arm's Scalable Vector Extensions (SVE). More specifically, we use Fujitsu's A64FX processor, the first to implement SVE. The A64FX powers the Fugaku Supercomputer that led the Top500 ranking from June 2020 to November 2021. After porting BWA-MEM2 we define and implement a number of optimizations to improve performance in the A64FX target architecture. We show that while the A64FX performance is lower than that of the Skylake system, A64FX delivers 11.6% better energy-to-solution on average. All the code used for this article is available at https://gitlab.bsc.es/rlangari/bwa-a64fx.


Assuntos
Algoritmos , Software , Humanos , Análise de Sequência de DNA/métodos , Computadores , Alinhamento de Sequência , Sequenciamento de Nucleotídeos em Larga Escala/métodos
2.
Artigo em Inglês | MEDLINE | ID: mdl-32750858

RESUMO

The FM-index is a data structure used in genomics for exact search of input sequences over large reference genomes. Algorithms based on the FM-index show an irregular memory access pattern, resulting in a memory bound problem. We analyze a recent implementation of the FM-index and highlight existing throughput-memory trade-offs, showing that memory requirements limit implementation of large k-steps. We propose COFI, a COmpressed FM-Index for large K-steps. COFI enables a 15-step FM-index using less than 16 GB for a human genome reference of 3 giga base pairs. An algorithm based on this new layout is evaluated on both a Knights Landing (KNL) and an Skylake-based system (SKX). We achieve average speed-ups of 1.46× and 1.39×, respectively, with respect to an state-of-the-art FM-index implementation that is already well optimized.


Assuntos
Genômica , Sequenciamento de Nucleotídeos em Larga Escala , Algoritmos , Genoma Humano , Humanos , Alinhamento de Sequência , Análise de Sequência de DNA , Software
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