_wigard-kloosterman-characterization-of-structural-variations-and-chromothripsis-in-nanopore-sequencing-data-of-human-gen.jpg "Wigard Kloosterman: Characterization of structural variations and chromothripsis in nanopore sequencing data of human genomes from 14x Video Screenshot Preview")
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⏲ Duration: 14 min 10 sec
✓ Published: 02-Dec-2016
✓ 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
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
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