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LevioSAM: fast lift-over of variant-aware reference alignments

MOTIVATION: As more population genetics datasets and population-specific references become available, the task of translating (‘lifting’) read alignments from one reference coordinate system to another is becoming more common. Existing tools generally require a chain file, whereas VCF files are the...

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Detalles Bibliográficos
Autores principales: Mun, Taher, Chen, Nae-Chyun, Langmead, Ben
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9502237/
https://www.ncbi.nlm.nih.gov/pubmed/34037690
http://dx.doi.org/10.1093/bioinformatics/btab396
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author Mun, Taher
Chen, Nae-Chyun
Langmead, Ben
author_facet Mun, Taher
Chen, Nae-Chyun
Langmead, Ben
author_sort Mun, Taher
collection PubMed
description MOTIVATION: As more population genetics datasets and population-specific references become available, the task of translating (‘lifting’) read alignments from one reference coordinate system to another is becoming more common. Existing tools generally require a chain file, whereas VCF files are the more common way to represent variation. Existing tools also do not make effective use of threads, creating a post-alignment bottleneck. RESULTS: LevioSAM is a tool for lifting SAM/BAM alignments from one reference to another using a VCF file containing population variants. LevioSAM uses succinct data structures and scales efficiently to many threads. When run downstream of a read aligner, levioSAM is more than 7 times faster than an aligner when both are run with 16 threads. AVAILABILITY AND IMPLEMENTATION: Software Package: https://github.com/alshai/levioSAM, Experiments: https://github.com/langmead-lab/levioSAM-experiments SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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spelling pubmed-95022372022-09-26 LevioSAM: fast lift-over of variant-aware reference alignments Mun, Taher Chen, Nae-Chyun Langmead, Ben Bioinformatics Applications Notes MOTIVATION: As more population genetics datasets and population-specific references become available, the task of translating (‘lifting’) read alignments from one reference coordinate system to another is becoming more common. Existing tools generally require a chain file, whereas VCF files are the more common way to represent variation. Existing tools also do not make effective use of threads, creating a post-alignment bottleneck. RESULTS: LevioSAM is a tool for lifting SAM/BAM alignments from one reference to another using a VCF file containing population variants. LevioSAM uses succinct data structures and scales efficiently to many threads. When run downstream of a read aligner, levioSAM is more than 7 times faster than an aligner when both are run with 16 threads. AVAILABILITY AND IMPLEMENTATION: Software Package: https://github.com/alshai/levioSAM, Experiments: https://github.com/langmead-lab/levioSAM-experiments SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Oxford University Press 2021-05-25 /pmc/articles/PMC9502237/ /pubmed/34037690 http://dx.doi.org/10.1093/bioinformatics/btab396 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 Applications Notes
Mun, Taher
Chen, Nae-Chyun
Langmead, Ben
LevioSAM: fast lift-over of variant-aware reference alignments
title LevioSAM: fast lift-over of variant-aware reference alignments
title_full LevioSAM: fast lift-over of variant-aware reference alignments
title_fullStr LevioSAM: fast lift-over of variant-aware reference alignments
title_full_unstemmed LevioSAM: fast lift-over of variant-aware reference alignments
title_short LevioSAM: fast lift-over of variant-aware reference alignments
title_sort leviosam: fast lift-over of variant-aware reference alignments
topic Applications Notes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9502237/
https://www.ncbi.nlm.nih.gov/pubmed/34037690
http://dx.doi.org/10.1093/bioinformatics/btab396
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