Improved molecular karyotyping in glioblastoma

Ian E. Burbulis, Margaret B. Wierman, Matt Wolpert, Mark Haakenson, Maria Beatriz Lopes, David Schiff, James Hicks, Justin Loe, Aakrosh Ratan, Michael J. McConnell*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

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.

Original languageEnglish
Pages (from-to)16-26
Number of pages11
JournalMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
Volume811
DOIs
StatePublished - 2018

Bibliographical note

Publisher Copyright:
© 2018 Elsevier B.V.

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Health, Toxicology and Mutagenesis

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