Improved molecular karyotyping in Glioblastoma

Burbulis, Ian E., Wierman, Margaret B., Wolpert, Matt, Haakenson, Mark, Lopes, Maria-Beatriz, Schiff, David, Hicks, James, Loe, Justin, Ratan, Aakrosh, McConnell, Michael J. (July 2018) Improved molecular karyotyping in Glioblastoma. Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 11. pp. 16-26. ISSN 0027-5107

DOI: 10.1016/j.mrfmmm.2018.06.002


Uneven replication creates artifacts during whole genome amplification (WGA) that confound molecular karyotype assignment in single cells. Here, we present an improved WGA recipe that increased coverage and detection of copy number variants (CNVs) in single cells. We examined serial resections of glioblastoma (GBM) tumor from the same patient and found low-abundance clones containing CNVs in clinically relevant loci that were not observable using bulk DNA sequencing. We discovered extensive genomic variability in this class of tumor and provide a practical approach for investigating somatic mosaicism

Item Type: Paper
Subjects: bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > copy number variants
diseases & disorders > cancer > cancer types > glioblastoma
CSHL Authors:
Depositing User: Matthew Dunn
Date: 8 July 2018
Date Deposited: 30 Jul 2018 15:48
Last Modified: 14 Aug 2018 19:00
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