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FORGe: prioritizing variants for graph genomes
There is growing interest in using genetic variants to augment the reference genome into a graph genome, with alternative sequences, to improve read alignment accuracy and reduce allelic bias. While adding a variant has the positive effect of removing an undesirable alignment score penalty, it also...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296055/ https://www.ncbi.nlm.nih.gov/pubmed/30558649 http://dx.doi.org/10.1186/s13059-018-1595-x |
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author | Pritt, Jacob Chen, Nae-Chyun Langmead, Ben |
author_facet | Pritt, Jacob Chen, Nae-Chyun Langmead, Ben |
author_sort | Pritt, Jacob |
collection | PubMed |
description | There is growing interest in using genetic variants to augment the reference genome into a graph genome, with alternative sequences, to improve read alignment accuracy and reduce allelic bias. While adding a variant has the positive effect of removing an undesirable alignment score penalty, it also increases both the ambiguity of the reference genome and the cost of storing and querying the genome index. We introduce methods and a software tool called FORGe for modeling these effects and prioritizing variants accordingly. We show that FORGe enables a range of advantageous and measurable trade-offs between accuracy and computational overhead. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13059-018-1595-x) contains supplementary material, which is available to authorized users. |
format | Online Article Text |
id | pubmed-6296055 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-62960552018-12-18 FORGe: prioritizing variants for graph genomes Pritt, Jacob Chen, Nae-Chyun Langmead, Ben Genome Biol Software There is growing interest in using genetic variants to augment the reference genome into a graph genome, with alternative sequences, to improve read alignment accuracy and reduce allelic bias. While adding a variant has the positive effect of removing an undesirable alignment score penalty, it also increases both the ambiguity of the reference genome and the cost of storing and querying the genome index. We introduce methods and a software tool called FORGe for modeling these effects and prioritizing variants accordingly. We show that FORGe enables a range of advantageous and measurable trade-offs between accuracy and computational overhead. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13059-018-1595-x) contains supplementary material, which is available to authorized users. BioMed Central 2018-12-17 /pmc/articles/PMC6296055/ /pubmed/30558649 http://dx.doi.org/10.1186/s13059-018-1595-x Text en © The Author(s) 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided 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 Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Software Pritt, Jacob Chen, Nae-Chyun Langmead, Ben FORGe: prioritizing variants for graph genomes |
title | FORGe: prioritizing variants for graph genomes |
title_full | FORGe: prioritizing variants for graph genomes |
title_fullStr | FORGe: prioritizing variants for graph genomes |
title_full_unstemmed | FORGe: prioritizing variants for graph genomes |
title_short | FORGe: prioritizing variants for graph genomes |
title_sort | forge: prioritizing variants for graph genomes |
topic | Software |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296055/ https://www.ncbi.nlm.nih.gov/pubmed/30558649 http://dx.doi.org/10.1186/s13059-018-1595-x |
work_keys_str_mv | AT prittjacob forgeprioritizingvariantsforgraphgenomes AT chennaechyun forgeprioritizingvariantsforgraphgenomes AT langmeadben forgeprioritizingvariantsforgraphgenomes |