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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...

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Detalles Bibliográficos
Autores principales: Pritt, Jacob, Chen, Nae-Chyun, Langmead, Ben
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
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.
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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
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