Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats

The complexity of structural variation (SV) and short tandem repeats (STRs) makes it necessary to apply different calling and filtering strategies to sequencing datasets. Here, Jakubosky et al. report a comprehensive SV and STR callset from whole-genome sequencing of 477 individuals from iPSCORE and...

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Autores principales:	David Jakubosky, Erin N. Smith, Matteo D’Antonio, Marc Jan Bonder, William W. Young Greenwald, Agnieszka D’Antonio-Chronowska, Hiroko Matsui, i2QTL Consortium, Oliver Stegle, Stephen B. Montgomery, Christopher DeBoever, Kelly A. Frazer
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/318f78de837f4a16ab088e0ac0b741f4
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spelling	oai:doaj.org-article:318f78de837f4a16ab088e0ac0b741f42021-12-02T17:30:39ZDiscovery and quality analysis of a comprehensive set of structural variants and short tandem repeats10.1038/s41467-020-16481-52041-1723https://doaj.org/article/318f78de837f4a16ab088e0ac0b741f42020-06-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-16481-5https://doaj.org/toc/2041-1723The complexity of structural variation (SV) and short tandem repeats (STRs) makes it necessary to apply different calling and filtering strategies to sequencing datasets. Here, Jakubosky et al. report a comprehensive SV and STR callset from whole-genome sequencing of 477 individuals from iPSCORE and HipSci using five algorithms.David JakuboskyErin N. SmithMatteo D’AntonioMarc Jan BonderWilliam W. Young GreenwaldAgnieszka D’Antonio-ChronowskaHiroko Matsuii2QTL ConsortiumOliver StegleStephen B. MontgomeryChristopher DeBoeverKelly A. FrazerNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q David Jakubosky Erin N. Smith Matteo D’Antonio Marc Jan Bonder William W. Young Greenwald Agnieszka D’Antonio-Chronowska Hiroko Matsui i2QTL Consortium Oliver Stegle Stephen B. Montgomery Christopher DeBoever Kelly A. Frazer Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats
description	The complexity of structural variation (SV) and short tandem repeats (STRs) makes it necessary to apply different calling and filtering strategies to sequencing datasets. Here, Jakubosky et al. report a comprehensive SV and STR callset from whole-genome sequencing of 477 individuals from iPSCORE and HipSci using five algorithms.
format	article
author	David Jakubosky Erin N. Smith Matteo D’Antonio Marc Jan Bonder William W. Young Greenwald Agnieszka D’Antonio-Chronowska Hiroko Matsui i2QTL Consortium Oliver Stegle Stephen B. Montgomery Christopher DeBoever Kelly A. Frazer
author_facet	David Jakubosky Erin N. Smith Matteo D’Antonio Marc Jan Bonder William W. Young Greenwald Agnieszka D’Antonio-Chronowska Hiroko Matsui i2QTL Consortium Oliver Stegle Stephen B. Montgomery Christopher DeBoever Kelly A. Frazer
author_sort	David Jakubosky
title	Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats
title_short	Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats
title_full	Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats
title_fullStr	Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats
title_full_unstemmed	Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats
title_sort	discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/318f78de837f4a16ab088e0ac0b741f4
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Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats

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