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Compact and evenly distributed k-mer binning for genomic sequences

MOTIVATION: The processing of k-mers (subsequences of length k) is at the foundation of many sequence processing algorithms in bioinformatics, including k-mer counting for genome size estimation, genome assembly, and taxonomic classification for metagenomics. Minimizers—ordered m-mers where m < k...

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Autores principales: Nyström-Persson, Johan, Keeble-Gagnère, Gabriel, Zawad, Niamat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8428581/
https://www.ncbi.nlm.nih.gov/pubmed/33693556
http://dx.doi.org/10.1093/bioinformatics/btab156
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author Nyström-Persson, Johan
Keeble-Gagnère, Gabriel
Zawad, Niamat
author_facet Nyström-Persson, Johan
Keeble-Gagnère, Gabriel
Zawad, Niamat
author_sort Nyström-Persson, Johan
collection PubMed
description MOTIVATION: The processing of k-mers (subsequences of length k) is at the foundation of many sequence processing algorithms in bioinformatics, including k-mer counting for genome size estimation, genome assembly, and taxonomic classification for metagenomics. Minimizers—ordered m-mers where m < k—are often used to group k-mers into bins as a first step in such processing. However, minimizers are known to generate bins of very different sizes, which can pose challenges for distributed and parallel processing, as well as generally increase memory requirements. Furthermore, although various minimizer orderings have been proposed, their practical value for improving tool efficiency has not yet been fully explored. RESULTS: We present Discount, a distributed k-mer counting tool based on Apache Spark, which we use to investigate the behaviour of various minimizer orderings in practice when applied to metagenomics data. Using this tool, we then introduce the universal frequency ordering, a new combination of frequency-sampled minimizers and universal k-mer hitting sets, which yields both evenly distributed binning and small bin sizes. We show that this ordering allows Discount to perform distributed k-mer counting on a large dataset in as little as 1/8 of the memory of comparable approaches, making it the most efficient out-of-core distributed k-mer counting method available. AVAILABILITY AND IMPLEMENTATION: Discount is GPL licensed and available at https://github.com/jtnystrom/discount. The data underlying this article are available in the article and in its online supplementary material. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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spelling pubmed-84285812021-09-10 Compact and evenly distributed k-mer binning for genomic sequences Nyström-Persson, Johan Keeble-Gagnère, Gabriel Zawad, Niamat Bioinformatics Original Papers MOTIVATION: The processing of k-mers (subsequences of length k) is at the foundation of many sequence processing algorithms in bioinformatics, including k-mer counting for genome size estimation, genome assembly, and taxonomic classification for metagenomics. Minimizers—ordered m-mers where m < k—are often used to group k-mers into bins as a first step in such processing. However, minimizers are known to generate bins of very different sizes, which can pose challenges for distributed and parallel processing, as well as generally increase memory requirements. Furthermore, although various minimizer orderings have been proposed, their practical value for improving tool efficiency has not yet been fully explored. RESULTS: We present Discount, a distributed k-mer counting tool based on Apache Spark, which we use to investigate the behaviour of various minimizer orderings in practice when applied to metagenomics data. Using this tool, we then introduce the universal frequency ordering, a new combination of frequency-sampled minimizers and universal k-mer hitting sets, which yields both evenly distributed binning and small bin sizes. We show that this ordering allows Discount to perform distributed k-mer counting on a large dataset in as little as 1/8 of the memory of comparable approaches, making it the most efficient out-of-core distributed k-mer counting method available. AVAILABILITY AND IMPLEMENTATION: Discount is GPL licensed and available at https://github.com/jtnystrom/discount. The data underlying this article are available in the article and in its online supplementary material. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Oxford University Press 2021-03-08 /pmc/articles/PMC8428581/ /pubmed/33693556 http://dx.doi.org/10.1093/bioinformatics/btab156 Text en © The Author(s) 2021. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Papers
Nyström-Persson, Johan
Keeble-Gagnère, Gabriel
Zawad, Niamat
Compact and evenly distributed k-mer binning for genomic sequences
title Compact and evenly distributed k-mer binning for genomic sequences
title_full Compact and evenly distributed k-mer binning for genomic sequences
title_fullStr Compact and evenly distributed k-mer binning for genomic sequences
title_full_unstemmed Compact and evenly distributed k-mer binning for genomic sequences
title_short Compact and evenly distributed k-mer binning for genomic sequences
title_sort compact and evenly distributed k-mer binning for genomic sequences
topic Original Papers
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8428581/
https://www.ncbi.nlm.nih.gov/pubmed/33693556
http://dx.doi.org/10.1093/bioinformatics/btab156
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