Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads

Genome assembly approaches are limited by factors including cost, power and incomplete resolution. Here, the authors present Aquila, a method that uses a reference sequence and linked read data to generate high quality diploid genome assemblies from which genetic variation can be detected and phased...

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Autores principales:	Xin Zhou, Lu Zhang, Ziming Weng, David L. Dill, Arend Sidow
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/510921fb5e644af2b377aa9970ed505a
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id	oai:doaj.org-article:510921fb5e644af2b377aa9970ed505a
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spelling	oai:doaj.org-article:510921fb5e644af2b377aa9970ed505a2021-12-02T10:54:04ZAquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads10.1038/s41467-021-21395-x2041-1723https://doaj.org/article/510921fb5e644af2b377aa9970ed505a2021-02-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-21395-xhttps://doaj.org/toc/2041-1723Genome assembly approaches are limited by factors including cost, power and incomplete resolution. Here, the authors present Aquila, a method that uses a reference sequence and linked read data to generate high quality diploid genome assemblies from which genetic variation can be detected and phased.Xin ZhouLu ZhangZiming WengDavid L. DillArend SidowNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Xin Zhou Lu Zhang Ziming Weng David L. Dill Arend Sidow Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads
description	Genome assembly approaches are limited by factors including cost, power and incomplete resolution. Here, the authors present Aquila, a method that uses a reference sequence and linked read data to generate high quality diploid genome assemblies from which genetic variation can be detected and phased.
format	article
author	Xin Zhou Lu Zhang Ziming Weng David L. Dill Arend Sidow
author_facet	Xin Zhou Lu Zhang Ziming Weng David L. Dill Arend Sidow
author_sort	Xin Zhou
title	Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads
title_short	Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads
title_full	Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads
title_fullStr	Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads
title_full_unstemmed	Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads
title_sort	aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/510921fb5e644af2b377aa9970ed505a
work_keys_str_mv	AT xinzhou aquilaenablesreferenceassisteddiploidpersonalgenomeassemblyandcomprehensivevariantdetectionbasedonlinkedreads AT luzhang aquilaenablesreferenceassisteddiploidpersonalgenomeassemblyandcomprehensivevariantdetectionbasedonlinkedreads AT zimingweng aquilaenablesreferenceassisteddiploidpersonalgenomeassemblyandcomprehensivevariantdetectionbasedonlinkedreads AT davidldill aquilaenablesreferenceassisteddiploidpersonalgenomeassemblyandcomprehensivevariantdetectionbasedonlinkedreads AT arendsidow aquilaenablesreferenceassisteddiploidpersonalgenomeassemblyandcomprehensivevariantdetectionbasedonlinkedreads
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Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads

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