Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Hickey, Glenn, Heller, David, Monlong, Jean, Sibbesen, Jonas A., Sirén, Jouni, Eizenga, Jordan, Dawson, Eric T., Garrison, Erik, Novak, Adam M., Paten, Benedict
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
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
_version_ 1783497203792216064
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
work_keys_str_mv AT hickeyglenn genotypingstructuralvariantsinpangenomegraphsusingthevgtoolkit
AT hellerdavid genotypingstructuralvariantsinpangenomegraphsusingthevgtoolkit
AT monlongjean genotypingstructuralvariantsinpangenomegraphsusingthevgtoolkit
AT sibbesenjonasa genotypingstructuralvariantsinpangenomegraphsusingthevgtoolkit
AT sirenjouni genotypingstructuralvariantsinpangenomegraphsusingthevgtoolkit
AT eizengajordan genotypingstructuralvariantsinpangenomegraphsusingthevgtoolkit
AT dawsonerict genotypingstructuralvariantsinpangenomegraphsusingthevgtoolkit
AT garrisonerik genotypingstructuralvariantsinpangenomegraphsusingthevgtoolkit
AT novakadamm genotypingstructuralvariantsinpangenomegraphsusingthevgtoolkit
AT patenbenedict genotypingstructuralvariantsinpangenomegraphsusingthevgtoolkit