Genome Biology (Nov 2023)

STmut: a framework for visualizing somatic alterations in spatial transcriptomics data of cancer

  • Limin Chen,
  • Darwin Chang,
  • Bishal Tandukar,
  • Delahny Deivendran,
  • Joanna Pozniak,
  • Noel Cruz-Pacheco,
  • Raymond J. Cho,
  • Jeffrey Cheng,
  • Iwei Yeh,
  • Chris Marine,
  • Boris C. Bastian,
  • Andrew L. Ji,
  • A. Hunter Shain

DOI
https://doi.org/10.1186/s13059-023-03121-6
Journal volume & issue
Vol. 24, no. 1
pp. 1 – 23

Abstract

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Abstract Spatial transcriptomic technologies, such as the Visium platform, measure gene expression in different regions of tissues. Here, we describe new software, STmut, to visualize somatic point mutations, allelic imbalance, and copy number alterations in Visium data. STmut is tested on fresh-frozen Visium data, formalin-fixed paraffin-embedded (FFPE) Visium data, and tumors with and without matching DNA sequencing data. Copy number is inferred on all conditions, but the chemistry of the FFPE platform does not permit analyses of single nucleotide variants. Taken together, we propose solutions to add the genetic dimension to spatial transcriptomic data and describe the limitations of different datatypes.