Computer Science Department, ETH Zürich, 8092, Zürich, Switzerland.
Computer Engineering Department, Bilkent University, 06800 Bilkent, Ankara, Turkey.
Genome Biol. 2021 Aug 26;22(1):249. doi: 10.1186/s13059-021-02443-7.
Aligning sequencing reads onto a reference is an essential step of the majority of genomic analysis pipelines. Computational algorithms for read alignment have evolved in accordance with technological advances, leading to today's diverse array of alignment methods. We provide a systematic survey of algorithmic foundations and methodologies across 107 alignment methods, for both short and long reads. We provide a rigorous experimental evaluation of 11 read aligners to demonstrate the effect of these underlying algorithms on speed and efficiency of read alignment. We discuss how general alignment algorithms have been tailored to the specific needs of various domains in biology.
将测序reads 比对到参考基因组上是大多数基因组分析流程的一个基本步骤。随着技术的进步,用于 read 比对的计算算法也在不断发展,从而产生了今天多种多样的比对方法。我们对 107 种短读长和长读长的 read 比对方法进行了系统的调查,涵盖了算法基础和方法学两个方面。我们对 11 种 read 比对器进行了严格的实验评估,以展示这些底层算法对 read 比对速度和效率的影响。我们还讨论了通用比对算法如何针对生物学各个领域的具体需求进行了调整。