Wigard Kloosterman: Characterization of structural variations and chromothripsis in nanopore sequencing data of human genomes from 14x Watch Video
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⏲ 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
Play Video: (Note: The default playback of the video is HD VERSION. If your browser is buffering the video slowly, please play the REGULAR MP4 VERSION or Open The Video below for better experience. Thank you!)