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在计算基因组学中创建和使用最小草图。

Creating and Using Minimizer Sketches in Computational Genomics.

机构信息

Computer Science Department, Princeton University, Princeton, New Jersey, USA.

Computational Biology Department, Carnegie Mellon University, Pittsburgh, Pennsylvania, USA.

出版信息

J Comput Biol. 2023 Dec;30(12):1251-1276. doi: 10.1089/cmb.2023.0094. Epub 2023 Aug 30.

Abstract

Processing large data sets has become an essential part of computational genomics. Greatly increased availability of sequence data from multiple sources has fueled breakthroughs in genomics and related fields but has led to computational challenges processing large sequencing experiments. The minimizer sketch is a popular method for sequence sketching that underlies core steps in computational genomics such as read mapping, sequence assembling, k-mer counting, and more. In most applications, minimizer sketches are constructed using one of few classical approaches. More recently, efforts have been put into building minimizer sketches with desirable properties compared with the classical constructions. In this survey, we review the history of the minimizer sketch, the theories developed around the concept, and the plethora of applications taking advantage of such sketches. We aim to provide the readers a comprehensive picture of the research landscape involving minimizer sketches, in anticipation of better fusion of theory and application in the future.

摘要

处理大型数据集已成为计算基因组学的重要组成部分。来自多个来源的大量可用序列数据推动了基因组学和相关领域的突破,但也导致了处理大型测序实验的计算挑战。最小器草图是一种流行的序列草图方法,它是计算基因组学核心步骤(如读取映射、序列组装、k-mer 计数等)的基础。在大多数应用中,最小器草图都是使用少数几种经典方法之一构建的。最近,人们努力构建具有理想特性的最小器草图,与经典构造相比具有这些特性。在本综述中,我们回顾了最小器草图的历史、围绕该概念发展的理论以及利用此类草图的大量应用。我们的目标是为读者提供一幅涉及最小器草图的研究领域的全面图景,以期在未来更好地融合理论和应用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b413/11082048/237f58f38d40/cmb.2023.0094_figure1.jpg

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