HARDWARE ACCELERATION OF DNA READ ALIGNMENT PROGRAMS: CHALLENGES AND OPPORTUNITIES

IF 3.3 3区 数学 Q1 MATHEMATICS, INTERDISCIPLINARY APPLICATIONS Fractals-Complex Geometry Patterns and Scaling in Nature and Society Pub Date : 2023-08-08 DOI:10.1142/s0218348x23500974
PACHECO-BAUTISTA Daniel, CARREÑO-AGUILERA Ricardo, ALGREDO-BADILLO Ignacio, PATIÑO-ORTIZ Miguel
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Abstract

The alignment or mapping of Deoxyribonucleic Acid (DNA) reads produced by the new massively parallel sequencing machines is a fundamental initial step in the DNA analysis process. DNA alignment consists of ordering millions of short nucleotide sequences called reads, using a previously sequenced genome as a reference, to reconstruct the genetic code of a species. Even with the efforts made in the development of new multi-stage alignment programs, based on sophisticated algorithms and new filtering heuristics, the execution times remain limiting for the development of various applications such as epigenetics and genomic medicine. This paper presents an overview of recent developments in the acceleration of DNA alignment programs, with special emphasis on those based on hardware, in particular Graphics Processing Units (GPUs), Field Programmable Gate Arrays (FPGAs), and Processing-in-Memory (PIM) devices. Unlike most of the works found in the literature, which review only the proposals that gradually emerged in some specific acceleration technology, this work analyzes the contemporary state of the subject in a more comprehensive way, covering from the conception of the problem, the modern sequencing technologies and the analysis of the structure of the new alignment programs, to the most innovative software and hardware acceleration techniques. The foregoing allows to clearly define, at the end of the paper, the trends, challenges and opportunities that still prevail in the field. We hope that this work will serve as a guide for the development of new and more sophisticated DNA alignment systems.
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DNA读取比对程序的硬件加速:挑战与机遇
由新的大规模平行测序机产生的脱氧核糖核酸(DNA)读数的比对或绘图是DNA分析过程中基本的第一步。DNA比对包括对数百万个被称为reads的短核苷酸序列进行排序,使用先前测序的基因组作为参考,重建一个物种的遗传密码。即使在基于复杂算法和新的滤波启发式的新多阶段校准程序的开发方面做出了努力,执行时间仍然限制了各种应用的发展,如表观遗传学和基因组医学。本文概述了DNA比对程序加速的最新发展,特别强调了那些基于硬件的,特别是图形处理单元(gpu)、现场可编程门阵列(fpga)和内存处理(PIM)设备。与文献中发现的大多数作品不同,这些作品只回顾了一些特定加速技术中逐渐出现的建议,这本书以更全面的方式分析了该主题的当代状态,从问题的概念,现代测序技术和新对准程序的结构分析,到最具创新性的软件和硬件加速技术。前述允许清楚地定义,在论文的最后,趋势,挑战和机会,仍然盛行于该领域。我们希望这项工作将为开发新的和更复杂的DNA比对系统提供指导。
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来源期刊
CiteScore
7.40
自引率
23.40%
发文量
319
审稿时长
>12 weeks
期刊介绍: The investigation of phenomena involving complex geometry, patterns and scaling has gone through a spectacular development and applications in the past decades. For this relatively short time, geometrical and/or temporal scaling have been shown to represent the common aspects of many processes occurring in an unusually diverse range of fields including physics, mathematics, biology, chemistry, economics, engineering and technology, and human behavior. As a rule, the complex nature of a phenomenon is manifested in the underlying intricate geometry which in most of the cases can be described in terms of objects with non-integer (fractal) dimension. In other cases, the distribution of events in time or various other quantities show specific scaling behavior, thus providing a better understanding of the relevant factors determining the given processes. Using fractal geometry and scaling as a language in the related theoretical, numerical and experimental investigations, it has been possible to get a deeper insight into previously intractable problems. Among many others, a better understanding of growth phenomena, turbulence, iterative functions, colloidal aggregation, biological pattern formation, stock markets and inhomogeneous materials has emerged through the application of such concepts as scale invariance, self-affinity and multifractality. The main challenge of the journal devoted exclusively to the above kinds of phenomena lies in its interdisciplinary nature; it is our commitment to bring together the most recent developments in these fields so that a fruitful interaction of various approaches and scientific views on complex spatial and temporal behaviors in both nature and society could take place.
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