Mapping and phasing of structural variation in patient genomes using nanopore sequencing

The detection of structural variants can be difficult with short-read sequencing technology, especially when variants are highly complex. Here, the authors use a MinION nanopore sequencer to analyse two patient genomes and develop NanoSV to map known and novel structural variants in long read data.

Guardado en:

Detalles Bibliográficos
Autores principales:	Mircea Cretu Stancu, Markus J. van Roosmalen, Ivo Renkens, Marleen M. Nieboer, Sjors Middelkamp, Joep de Ligt, Giulia Pregno, Daniela Giachino, Giorgia Mandrile, Jose Espejo Valle-Inclan, Jerome Korzelius, Ewart de Bruijn, Edwin Cuppen, Michael E. Talkowski, Tobias Marschall, Jeroen de Ridder, Wigard P. Kloosterman
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/2f2f3bf4470440ca92bbf204569b91fc
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:2f2f3bf4470440ca92bbf204569b91fc
record_format	dspace
spelling	oai:doaj.org-article:2f2f3bf4470440ca92bbf204569b91fc2021-12-02T15:38:40ZMapping and phasing of structural variation in patient genomes using nanopore sequencing10.1038/s41467-017-01343-42041-1723https://doaj.org/article/2f2f3bf4470440ca92bbf204569b91fc2017-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-017-01343-4https://doaj.org/toc/2041-1723The detection of structural variants can be difficult with short-read sequencing technology, especially when variants are highly complex. Here, the authors use a MinION nanopore sequencer to analyse two patient genomes and develop NanoSV to map known and novel structural variants in long read data.Mircea Cretu StancuMarkus J. van RoosmalenIvo RenkensMarleen M. NieboerSjors MiddelkampJoep de LigtGiulia PregnoDaniela GiachinoGiorgia MandrileJose Espejo Valle-InclanJerome KorzeliusEwart de BruijnEdwin CuppenMichael E. TalkowskiTobias MarschallJeroen de RidderWigard P. KloostermanNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-13 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Mircea Cretu Stancu Markus J. van Roosmalen Ivo Renkens Marleen M. Nieboer Sjors Middelkamp Joep de Ligt Giulia Pregno Daniela Giachino Giorgia Mandrile Jose Espejo Valle-Inclan Jerome Korzelius Ewart de Bruijn Edwin Cuppen Michael E. Talkowski Tobias Marschall Jeroen de Ridder Wigard P. Kloosterman Mapping and phasing of structural variation in patient genomes using nanopore sequencing
description	The detection of structural variants can be difficult with short-read sequencing technology, especially when variants are highly complex. Here, the authors use a MinION nanopore sequencer to analyse two patient genomes and develop NanoSV to map known and novel structural variants in long read data.
format	article
author	Mircea Cretu Stancu Markus J. van Roosmalen Ivo Renkens Marleen M. Nieboer Sjors Middelkamp Joep de Ligt Giulia Pregno Daniela Giachino Giorgia Mandrile Jose Espejo Valle-Inclan Jerome Korzelius Ewart de Bruijn Edwin Cuppen Michael E. Talkowski Tobias Marschall Jeroen de Ridder Wigard P. Kloosterman
author_facet	Mircea Cretu Stancu Markus J. van Roosmalen Ivo Renkens Marleen M. Nieboer Sjors Middelkamp Joep de Ligt Giulia Pregno Daniela Giachino Giorgia Mandrile Jose Espejo Valle-Inclan Jerome Korzelius Ewart de Bruijn Edwin Cuppen Michael E. Talkowski Tobias Marschall Jeroen de Ridder Wigard P. Kloosterman
author_sort	Mircea Cretu Stancu
title	Mapping and phasing of structural variation in patient genomes using nanopore sequencing
title_short	Mapping and phasing of structural variation in patient genomes using nanopore sequencing
title_full	Mapping and phasing of structural variation in patient genomes using nanopore sequencing
title_fullStr	Mapping and phasing of structural variation in patient genomes using nanopore sequencing
title_full_unstemmed	Mapping and phasing of structural variation in patient genomes using nanopore sequencing
title_sort	mapping and phasing of structural variation in patient genomes using nanopore sequencing
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/2f2f3bf4470440ca92bbf204569b91fc
work_keys_str_mv	AT mirceacretustancu mappingandphasingofstructuralvariationinpatientgenomesusingnanoporesequencing AT markusjvanroosmalen mappingandphasingofstructuralvariationinpatientgenomesusingnanoporesequencing AT ivorenkens mappingandphasingofstructuralvariationinpatientgenomesusingnanoporesequencing AT marleenmnieboer mappingandphasingofstructuralvariationinpatientgenomesusingnanoporesequencing AT sjorsmiddelkamp mappingandphasingofstructuralvariationinpatientgenomesusingnanoporesequencing AT joepdeligt mappingandphasingofstructuralvariationinpatientgenomesusingnanoporesequencing AT giuliapregno mappingandphasingofstructuralvariationinpatientgenomesusingnanoporesequencing AT danielagiachino mappingandphasingofstructuralvariationinpatientgenomesusingnanoporesequencing AT giorgiamandrile mappingandphasingofstructuralvariationinpatientgenomesusingnanoporesequencing AT joseespejovalleinclan mappingandphasingofstructuralvariationinpatientgenomesusingnanoporesequencing AT jeromekorzelius mappingandphasingofstructuralvariationinpatientgenomesusingnanoporesequencing AT ewartdebruijn mappingandphasingofstructuralvariationinpatientgenomesusingnanoporesequencing AT edwincuppen mappingandphasingofstructuralvariationinpatientgenomesusingnanoporesequencing AT michaeletalkowski mappingandphasingofstructuralvariationinpatientgenomesusingnanoporesequencing AT tobiasmarschall mappingandphasingofstructuralvariationinpatientgenomesusingnanoporesequencing AT jeroenderidder mappingandphasingofstructuralvariationinpatientgenomesusingnanoporesequencing AT wigardpkloosterman mappingandphasingofstructuralvariationinpatientgenomesusingnanoporesequencing
_version_	1718386102258106368

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

Ejemplares similares