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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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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. |
format | Online Article Text |
id | pubmed-9502237 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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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