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

URL: https://www.ncbi.nlm.nih.gov/pubmed/30055482
DOI: 10.1016/j.mrfmmm.2018.06.002

Abstract

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
diseases & disorders > cancer
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification
diseases & disorders
bioinformatics > genomics and proteomics > genetics & nucleic acid processing
bioinformatics > genomics and proteomics
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > copy number variants
diseases & disorders > cancer > cancer types > glioblastoma
diseases & disorders > cancer > cancer types
CSHL Authors:
Depositing User: Matthew Dunn
Date: 8 July 2018
Date Deposited: 30 Jul 2018 15:48
Last Modified: 07 Feb 2024 18:37
Related URLs:
URI: https://repository.cshl.edu/id/eprint/37082

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