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

November 2017

Mircea Cretu Stancu, Markus van Roosmalen, Ivo Renkens, Marleen Nieboer, et al.

Scientists used the Oxford MinION nanopore sequencer with a novel pipeline, NanoSV, to detect structural variants from the genomes of two patients. They found that long reads are better than short reads at detecting events such as de novo chromothripsis rearrangements. The team used PippinHT for size-selecting libraries prior to sequencing.

Nature Communications 8: 1326 (2017)
doi: 10.1038/s41467-017-01343-4

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