Nature Communications (Nov 2017)
Mapping and phasing of structural variation in patient genomes using nanopore sequencing
- 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
Affiliations
- Mircea Cretu Stancu
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University
- Markus J. van Roosmalen
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University
- Ivo Renkens
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University
- Marleen M. Nieboer
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University
- Sjors Middelkamp
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University
- Joep de Ligt
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University
- Giulia Pregno
- Medical Genetics Unit, Department of Clinical and Biological Sciences, University of Torino
- Daniela Giachino
- Medical Genetics Unit, Department of Clinical and Biological Sciences, University of Torino
- Giorgia Mandrile
- Medical Genetics Unit, Department of Clinical and Biological Sciences, University of Torino
- Jose Espejo Valle-Inclan
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University
- Jerome Korzelius
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University
- Ewart de Bruijn
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University
- Edwin Cuppen
- Department of Genetics and Cancer Genomics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University
- Michael E. Talkowski
- Center for Genomic Medicine, Massachusetts General Hospital
- Tobias Marschall
- Center for Bioinformatics, Saarland University
- Jeroen de Ridder
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University
- Wigard P. Kloosterman
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University
- DOI
- https://doi.org/10.1038/s41467-017-01343-4
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 13
Abstract
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.
