Journal Article

SlideCNA: spatial copy number alteration detection from Slide-seq-like spatial transcriptomics data

Wagle, Nikhil, Chen, Fei, Slyper, Michal, Lako, Ana, Ashenberg, Orr, Regev, Aviv, Murray, Evan, Jané-Valbuena, Judit, Segerstolpe, Åsa, Klughammer, Johanna, Rozenblatt-Rosen, Orit, Helvie, Karla, Abravanel, Daniel, Cohen, Ofir, Waldman, Julia, Mages, Simon, Strasser, Robert, Watter, Jan, Zhang, Diane, Rodig, Scott

2025

Overview

Solid tumors are spatially heterogeneous in their genetic, molecular, and cellular composition, but recent spatial profiling studies have mostly charted genetic and RNA variation in tumors separately. To leverage the potential of RNA to identify copy number alterations (CNAs), we develop SlideCNA, a computational tool to extract CNA signals from sparse spatial transcriptomics data with near single cellular resolution. SlideCNA uses expression-aware spatial binning to overcome sparsity limitations while maintaining spatial signal to recover CNA patterns. We test SlideCNA on simulated and real Slide-seq data of (metastatic) breast cancer and demonstrate its potential for spatial subclone detection.

• Publisher: BioMed Central,Springer Nature B.V,BMC
• Subject: Animal Genetics and Genomics / Bioinformatics / Biomedical and Life Sciences / Biopsy / Breast cancer / breast neoplasms / Breast Neoplasms - genetics / Breast Neoplasms - pathology / Cancer / Chromosomes / Cloning / Copy number / Copy number alterations / Datasets / DNA Copy Number Variations / Evolutionary Biology / Female / Gene Expression Profiling - methods / Genetic diversity / genome / Human Genetics / Humans / Life Sciences / Metastases / metastasis / Microbial Genetics and Genomics / Plant Genetics and Genomics / RNA / Short Report / Single-cell RNA-seq / Slide-seq / Software / Solid tumors / Sparsity / Spatial transcriptomics / Transcriptome / Transcriptomics / Tumor microenvironment