GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs

Structural variants may be omitted in sequence analysis despite their importance in genome variation and phenotypic impact. Here the authors present GraphTyper2, which uses pangenome graphs to genotype structural variants using short-reads and can be applied in large-scale sequencing studies.

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Autores principales:	Hannes P. Eggertsson, Snaedis Kristmundsdottir, Doruk Beyter, Hakon Jonsson, Astros Skuladottir, Marteinn T. Hardarson, Daniel F. Gudbjartsson, Kari Stefansson, Bjarni V. Halldorsson, Pall Melsted
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/cd77ec3f22c54b3da55a42242e739711
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spelling	oai:doaj.org-article:cd77ec3f22c54b3da55a42242e7397112021-12-02T15:35:38ZGraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs10.1038/s41467-019-13341-92041-1723https://doaj.org/article/cd77ec3f22c54b3da55a42242e7397112019-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-13341-9https://doaj.org/toc/2041-1723Structural variants may be omitted in sequence analysis despite their importance in genome variation and phenotypic impact. Here the authors present GraphTyper2, which uses pangenome graphs to genotype structural variants using short-reads and can be applied in large-scale sequencing studies.Hannes P. EggertssonSnaedis KristmundsdottirDoruk BeyterHakon JonssonAstros SkuladottirMarteinn T. HardarsonDaniel F. GudbjartssonKari StefanssonBjarni V. HalldorssonPall MelstedNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-8 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Hannes P. Eggertsson Snaedis Kristmundsdottir Doruk Beyter Hakon Jonsson Astros Skuladottir Marteinn T. Hardarson Daniel F. Gudbjartsson Kari Stefansson Bjarni V. Halldorsson Pall Melsted GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs
description	Structural variants may be omitted in sequence analysis despite their importance in genome variation and phenotypic impact. Here the authors present GraphTyper2, which uses pangenome graphs to genotype structural variants using short-reads and can be applied in large-scale sequencing studies.
format	article
author	Hannes P. Eggertsson Snaedis Kristmundsdottir Doruk Beyter Hakon Jonsson Astros Skuladottir Marteinn T. Hardarson Daniel F. Gudbjartsson Kari Stefansson Bjarni V. Halldorsson Pall Melsted
author_facet	Hannes P. Eggertsson Snaedis Kristmundsdottir Doruk Beyter Hakon Jonsson Astros Skuladottir Marteinn T. Hardarson Daniel F. Gudbjartsson Kari Stefansson Bjarni V. Halldorsson Pall Melsted
author_sort	Hannes P. Eggertsson
title	GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs
title_short	GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs
title_full	GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs
title_fullStr	GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs
title_full_unstemmed	GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs
title_sort	graphtyper2 enables population-scale genotyping of structural variation using pangenome graphs
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/cd77ec3f22c54b3da55a42242e739711
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GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs

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