epiAneufinder identifies copy number alterations from single-cell ATAC-seq data
Nature Communications article from Associate Maria Colomé-Tatché's lab
20.09.2023
Akshaya Ramakrishnan, Aikaterini Symeonidi, Patrick Hanel, Katharina T. Schmid, Maria L. Richter, Michael Schubert, Maria Colomé-Tatché (2023 Sep 20) epiAneufinder identifies copy number alterations from single-cell ATAC-seq data. Nature Communications 14: 5846 (2023). https://doi.org/10.1038/s41467-023-41076-1
Abstract cited directly from the article:
Single-cell open chromatin profiling via scATAC-seq has become a mainstream measurement of open chromatin in single-cells. Here we present epiAneufinder, an algorithm that exploits the read count information from scATAC-seq data to extract genome-wide copy number alterations (CNAs) for individual cells, allowing the study of CNA heterogeneity present in a sample at the single-cell level. Using different cancer scATAC-seq datasets, we show that epiAneufinder can identify intratumor clonal heterogeneity in populations of single cells based on their CNA profiles. We demonstrate that these profiles are concordant with the ones inferred from single-cell whole genome sequencing data for the same samples. EpiAneufinder allows the inference of single-cell CNA information from scATAC-seq data, without the need of additional experiments, unlocking a layer of genomic variation which is otherwise unexplored.