Article
Mapping and phasing of structural variation in patient genomes using nanopore sequencing.
Nature communications - 6 Nov 2017
Cretu Stancu Mircea, van Roosmalen Markus J, Renkens Ivo, Nieboer Marleen M, Middelkamp Sjors, de Ligt Joep, Pregno Giulia, Giachino Daniela, Mandrile Giorgia, Espejo Valle-Inclan Jose, Korzelius Jerome, de Bruijn Ewart, Cuppen Edwin, Talkowski Michael E, Marschall Tobias, de Ridder Jeroen, Kloosterman Wigard P
Abstract excerpt
Despite improvements in genomics technology, the detection of structural variants (SVs) from short-read sequencing still poses challenges, particularly for complex variation. Here we analyse the genomes of two patients with congenital abnormalities using the MinION nanopore sequencer and a novel computational pipeline-NanoSV. We demonstrate that nanopore long reads are superior to short reads with regard to...
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