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Genotyping structural variants in pangenome graphs using the vg toolkit
Structural variants (SVs) remain challenging to represent and study relative to point mutations despite their demonstrated importance. We show that variation graphs, as implemented in the vg toolkit, provide an effective means for leveraging SV catalogs for short-read SV genotyping experiments. We b...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017486/ https://www.ncbi.nlm.nih.gov/pubmed/32051000 http://dx.doi.org/10.1186/s13059-020-1941-7 |
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author | Hickey, Glenn Heller, David Monlong, Jean Sibbesen, Jonas A. Sirén, Jouni Eizenga, Jordan Dawson, Eric T. Garrison, Erik Novak, Adam M. Paten, Benedict |
author_facet | Hickey, Glenn Heller, David Monlong, Jean Sibbesen, Jonas A. Sirén, Jouni Eizenga, Jordan Dawson, Eric T. Garrison, Erik Novak, Adam M. Paten, Benedict |
author_sort | Hickey, Glenn |
collection | PubMed |
description | Structural variants (SVs) remain challenging to represent and study relative to point mutations despite their demonstrated importance. We show that variation graphs, as implemented in the vg toolkit, provide an effective means for leveraging SV catalogs for short-read SV genotyping experiments. We benchmark vg against state-of-the-art SV genotypers using three sequence-resolved SV catalogs generated by recent long-read sequencing studies. In addition, we use assemblies from 12 yeast strains to show that graphs constructed directly from aligned de novo assemblies improve genotyping compared to graphs built from intermediate SV catalogs in the VCF format. |
format | Online Article Text |
id | pubmed-7017486 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-70174862020-02-20 Genotyping structural variants in pangenome graphs using the vg toolkit Hickey, Glenn Heller, David Monlong, Jean Sibbesen, Jonas A. Sirén, Jouni Eizenga, Jordan Dawson, Eric T. Garrison, Erik Novak, Adam M. Paten, Benedict Genome Biol Method Structural variants (SVs) remain challenging to represent and study relative to point mutations despite their demonstrated importance. We show that variation graphs, as implemented in the vg toolkit, provide an effective means for leveraging SV catalogs for short-read SV genotyping experiments. We benchmark vg against state-of-the-art SV genotypers using three sequence-resolved SV catalogs generated by recent long-read sequencing studies. In addition, we use assemblies from 12 yeast strains to show that graphs constructed directly from aligned de novo assemblies improve genotyping compared to graphs built from intermediate SV catalogs in the VCF format. BioMed Central 2020-02-12 /pmc/articles/PMC7017486/ /pubmed/32051000 http://dx.doi.org/10.1186/s13059-020-1941-7 Text en © The Author(s). 2020 Open AccessThis 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 | Method Hickey, Glenn Heller, David Monlong, Jean Sibbesen, Jonas A. Sirén, Jouni Eizenga, Jordan Dawson, Eric T. Garrison, Erik Novak, Adam M. Paten, Benedict Genotyping structural variants in pangenome graphs using the vg toolkit |
title | Genotyping structural variants in pangenome graphs using the vg toolkit |
title_full | Genotyping structural variants in pangenome graphs using the vg toolkit |
title_fullStr | Genotyping structural variants in pangenome graphs using the vg toolkit |
title_full_unstemmed | Genotyping structural variants in pangenome graphs using the vg toolkit |
title_short | Genotyping structural variants in pangenome graphs using the vg toolkit |
title_sort | genotyping structural variants in pangenome graphs using the vg toolkit |
topic | Method |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017486/ https://www.ncbi.nlm.nih.gov/pubmed/32051000 http://dx.doi.org/10.1186/s13059-020-1941-7 |
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