Single-molecule analysis reveals widespread structural variation in multiple myeloma

Aditya Gupta, Michael Place, Steven Goldstein, Deepayan Sarkar, Shiguo Zhou, Konstantinos Potamousis, Jaehyup Kim, Claire Flanagan, Yang Li, Michael A. Newton, Natalie S. Callander, Peiman Hematti, Emery H. Bresnick, Jian Ma, Fotis Asimakopoulos, David C. Schwartz

Research output: Contribution to journalArticlepeer-review

38 Scopus citations


Multiple myeloma (MM), a malignancy of plasma cells, is characterized by widespread genomic heterogeneity and, consequently, differences in disease progression and drug response. Although recent large-scale sequencing studies have greatly improved our understanding of MM genomes, our knowledge about genomic structural variation in MM is attenuated due to the limitations of commonly used sequencing approaches. In this study, we present the application of optical mapping, a single-molecule, whole-genome analysis system, to discover new structural variants in a primary MM genome. Through our analysis, we have identified and characterized widespread structural variation in this tumor genome. Additionally, we describe our efforts toward comprehensive characterization of genome structure and variation by integrating our findings from optical mapping with those from DNA sequencing-based genomic analysis. Finally, by studying this MM genome at two time points during tumor progression, we have demonstrated an increase in mutational burden with tumor progression at all length scales of variation.

Original languageEnglish (US)
Pages (from-to)7689-7694
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number25
StatePublished - Jun 23 2015
Externally publishedYes


  • Copy number
  • DNA sequencing
  • Multiple myeloma
  • Optical mapping
  • Structural variation

ASJC Scopus subject areas

  • General


Dive into the research topics of 'Single-molecule analysis reveals widespread structural variation in multiple myeloma'. Together they form a unique fingerprint.

Cite this