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

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.

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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
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Acceso en línea:https://doaj.org/article/2f2f3bf4470440ca92bbf204569b91fc
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Descripción
Sumario: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.

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