Highly Multiplexed Fluorescence in Situ Hybridization for in Situ Genomics

Research output: Journal Publications and Reviews (RGC: 21, 22, 62)21_Publication in refereed journal

View graph of relations

Author(s)

  • Maristela L. Onozato
  • Clarence Yapp
  • Douglas Richardson
  • Tilak Sundaresan
  • Varun Chahal
  • Jesse Lee
  • James P. Sullivan
  • Marisa W. Madden
  • Hyo S. Shim
  • Matthew Liebers
  • Quan Ho
  • Shyamala Maheswaran
  • Daniel A. Haber
  • Brian Clancy
  • Hunter L. Elliott
  • Jochen K. Lennerz
  • A. John Iafrate

Detail(s)

Original languageEnglish
Pages (from-to)390-407
Journal / PublicationJournal of Molecular Diagnostics
Volume21
Issue number3
Online published9 Mar 2019
Publication statusPublished - May 2019
Externally publishedYes

Abstract

The quantification of changes in gene copy number is critical to our understanding of tumor biology and for the clinical management of cancer patients. DNA fluorescence in situ hybridization is the gold standard method to detect copy number alterations, but it is limited by the number of genes one can quantify simultaneously. To increase the throughput of this informative technique, a fluorescent bar-code system for the unique labeling of dozens of genes and an automated image analysis algorithm that enabled their simultaneous hybridization for the quantification of gene copy numbers were devised. We demonstrate the reliability of this multiplex approach on normal human lymphocytes, metaphase spreads of transformed cell lines, and cultured circulating tumor cells. It also opens the door to the development of gene panels for more comprehensive analysis of copy number changes in tissue, including the study of heterogeneity and of high-throughput clinical assays that could provide rapid quantification of gene copy numbers in samples with limited cellularity, such as circulating tumor cells.

Citation Format(s)

Highly Multiplexed Fluorescence in Situ Hybridization for in Situ Genomics. / Onozato, Maristela L.; Yapp, Clarence; Richardson, Douglas; Sundaresan, Tilak; Chahal, Varun; Lee, Jesse; Sullivan, James P.; Madden, Marisa W.; Shim, Hyo S.; Liebers, Matthew; Ho, Quan; Maheswaran, Shyamala; Haber, Daniel A.; Zheng, Zongli; Clancy, Brian; Elliott, Hunter L.; Lennerz, Jochen K.; Iafrate, A. John.

In: Journal of Molecular Diagnostics, Vol. 21, No. 3, 05.2019, p. 390-407.

Research output: Journal Publications and Reviews (RGC: 21, 22, 62)21_Publication in refereed journal