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Featherweight long read alignment using partitioned reference indexes

The advent of Nanopore sequencing has realised portable genomic research and applications. However, state of the art long read aligners and large reference genomes are not compatible with most mobile computing devices due to their high memory requirements. We show how memory requirements can be redu...

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Detalles Bibliográficos
Autores principales: Gamaarachchi, Hasindu, Parameswaran, Sri, Smith, Martin A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416333/
https://www.ncbi.nlm.nih.gov/pubmed/30867495
http://dx.doi.org/10.1038/s41598-019-40739-8
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author Gamaarachchi, Hasindu
Parameswaran, Sri
Smith, Martin A.
author_facet Gamaarachchi, Hasindu
Parameswaran, Sri
Smith, Martin A.
author_sort Gamaarachchi, Hasindu
collection PubMed
description The advent of Nanopore sequencing has realised portable genomic research and applications. However, state of the art long read aligners and large reference genomes are not compatible with most mobile computing devices due to their high memory requirements. We show how memory requirements can be reduced through parameter optimisation and reference genome partitioning, but highlight the associated limitations and caveats of these approaches. We then demonstrate how these issues can be overcome through an appropriate merging technique. We incorporated multi-index merging into the Minimap2 aligner and demonstrate that long read alignment to the human genome can be performed on a system with 2 GB RAM with negligible impact on accuracy.
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spelling pubmed-64163332019-03-15 Featherweight long read alignment using partitioned reference indexes Gamaarachchi, Hasindu Parameswaran, Sri Smith, Martin A. Sci Rep Article The advent of Nanopore sequencing has realised portable genomic research and applications. However, state of the art long read aligners and large reference genomes are not compatible with most mobile computing devices due to their high memory requirements. We show how memory requirements can be reduced through parameter optimisation and reference genome partitioning, but highlight the associated limitations and caveats of these approaches. We then demonstrate how these issues can be overcome through an appropriate merging technique. We incorporated multi-index merging into the Minimap2 aligner and demonstrate that long read alignment to the human genome can be performed on a system with 2 GB RAM with negligible impact on accuracy. Nature Publishing Group UK 2019-03-13 /pmc/articles/PMC6416333/ /pubmed/30867495 http://dx.doi.org/10.1038/s41598-019-40739-8 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Gamaarachchi, Hasindu
Parameswaran, Sri
Smith, Martin A.
Featherweight long read alignment using partitioned reference indexes
title Featherweight long read alignment using partitioned reference indexes
title_full Featherweight long read alignment using partitioned reference indexes
title_fullStr Featherweight long read alignment using partitioned reference indexes
title_full_unstemmed Featherweight long read alignment using partitioned reference indexes
title_short Featherweight long read alignment using partitioned reference indexes
title_sort featherweight long read alignment using partitioned reference indexes
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416333/
https://www.ncbi.nlm.nih.gov/pubmed/30867495
http://dx.doi.org/10.1038/s41598-019-40739-8
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