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Pangenomic genotyping with the marker array
We present a new method and software tool called rowbowt that applies a pangenome index to the problem of inferring genotypes from short-read sequencing data. The method uses a novel indexing structure called the marker array. Using the marker array, we can genotype variants with respect from large...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10161648/ https://www.ncbi.nlm.nih.gov/pubmed/37147657 http://dx.doi.org/10.1186/s13015-023-00225-3 |
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author | Mun, Taher Vaddadi, Naga Sai Kavya Langmead, Ben |
author_facet | Mun, Taher Vaddadi, Naga Sai Kavya Langmead, Ben |
author_sort | Mun, Taher |
collection | PubMed |
description | We present a new method and software tool called rowbowt that applies a pangenome index to the problem of inferring genotypes from short-read sequencing data. The method uses a novel indexing structure called the marker array. Using the marker array, we can genotype variants with respect from large panels like the 1000 Genomes Project while reducing the reference bias that results when aligning to a single linear reference. rowbowt can infer accurate genotypes in less time and memory compared to existing graph-based methods. The method is implemented in the open source software tool rowbowt available at https://github.com/alshai/rowbowt. |
format | Online Article Text |
id | pubmed-10161648 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-101616482023-05-06 Pangenomic genotyping with the marker array Mun, Taher Vaddadi, Naga Sai Kavya Langmead, Ben Algorithms Mol Biol Software We present a new method and software tool called rowbowt that applies a pangenome index to the problem of inferring genotypes from short-read sequencing data. The method uses a novel indexing structure called the marker array. Using the marker array, we can genotype variants with respect from large panels like the 1000 Genomes Project while reducing the reference bias that results when aligning to a single linear reference. rowbowt can infer accurate genotypes in less time and memory compared to existing graph-based methods. The method is implemented in the open source software tool rowbowt available at https://github.com/alshai/rowbowt. BioMed Central 2023-05-05 /pmc/articles/PMC10161648/ /pubmed/37147657 http://dx.doi.org/10.1186/s13015-023-00225-3 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Software Mun, Taher Vaddadi, Naga Sai Kavya Langmead, Ben Pangenomic genotyping with the marker array |
title | Pangenomic genotyping with the marker array |
title_full | Pangenomic genotyping with the marker array |
title_fullStr | Pangenomic genotyping with the marker array |
title_full_unstemmed | Pangenomic genotyping with the marker array |
title_short | Pangenomic genotyping with the marker array |
title_sort | pangenomic genotyping with the marker array |
topic | Software |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10161648/ https://www.ncbi.nlm.nih.gov/pubmed/37147657 http://dx.doi.org/10.1186/s13015-023-00225-3 |
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