Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping.

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作者： Griet,De Clercq ^[1] ; Lies,Vantomme ^[2] ; Barbara,Dewaele ^[3] ; Bert,Callewaert ^[1] ; Olivier,Vanakker ^[1] ; Sandra,Janssens ^[1] ; Bart,Loeys ^[4] ; Mojca,Strazisar ^[5] ; Wouter,De Coster ^[6] ; Joris Robert,Vermeesch ^[7] ; Annelies,Dheedene ^[8] ; Björn,Menten ^[9]

作者单位： Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.;Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium. ^[1] Department of Biomolecular Medicine, Ghent University, Ghent, Belgium. ^[2] Center for Human Genetics Leuven, University Hospital Leuven, Leuven, Belgium. ^[3] Center for Medical Genetics Antwerp, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium. ^[4] Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.;Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. ^[5] Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.;Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium. ^[6] Center for Human Genetics Leuven, University Hospital Leuven, Leuven, Belgium.;Department of Human Genetics, KU Leuven, Leuven, Belgium. ^[7] Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium. ^[8] Department of Biomolecular Medicine, Ghent University, Ghent, Belgium. bjorn.menten@ugent.be.;Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium. bjorn.menten@ugent.be. ^[9]

关键词 Chromothripsis Clinical genomics Complex genomic rearrangements Long-read sequencing Optical genome mapping Structural variation