Wigard Kloosterman: Characterization of structural variations and chromothripsis in nanopore sequencing data of human genomes from 14x Watch Video

⏲ Duration: 14 min 10 sec
✓ Published: 02-Dec-2016

Description:
Large capital investments are needed for second-generation sequencing equipment, which has led to the concentration of human genome sequencing efforts in specialized sequencing centers. We demonstrate feasibility to sequence the entire genome of a patient with congenital abnormalities using the MinION sequencer. By combining data from R7 and R9 sequencing chemistries, we reached 14x mean coverage of the genome. We developed a novel bioinformatic pipeline — nanoSV — to efficiently map genomic