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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Auteurs principaux:	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
Format:	article
Langue:	EN
Publié:	Nature Portfolio 2017
Sujets:	Science Q
Accès en ligne:	https://doaj.org/article/2f2f3bf4470440ca92bbf204569b91fc
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Mapping and phasing of structural variation in patient genomes using nanopore sequencing

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