Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

June 2019

De Coster Wouter, De Rijk Peter, De Roeck Arne, De Pooter Tim, D’Hert Svenn, Strazisar Mojca, Kristel Sleegers and Van Broeckhoven Christine

Researchers from VIB Center for Molecular Neurology, Antwerp Belgium and University of Antwerp assess using the ONT Promethion for Structural Varian detection in the genome of Yoruban reference individual NA19240. Several variant calling tools were evaluated and compared to short-read sequencing variant calls. A scalable workflow is discussed and future study is considered.
The BluePippin was used for High Pass DNA size selection prior to library construction.

Genome Research
DOI: 10.1101/gr.244939.118

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