Robust estimation of cancer and immune cell-type proportions from bulk tumor ATAC-Seq data

Elife. 2024 Oct 9:13:RP94833. doi: 10.7554/eLife.94833.

Abstract

Assay for Transposase-Accessible Chromatin sequencing (ATAC-Seq) is a widely used technique to explore gene regulatory mechanisms. For most ATAC-Seq data from healthy and diseased tissues such as tumors, chromatin accessibility measurement represents a mixed signal from multiple cell types. In this work, we derive reliable chromatin accessibility marker peaks and reference profiles for most non-malignant cell types frequently observed in the microenvironment of human tumors. We then integrate these data into the EPIC deconvolution framework (Racle et al., 2017) to quantify cell-type heterogeneity in bulk ATAC-Seq data. Our EPIC-ATAC tool accurately predicts non-malignant and malignant cell fractions in tumor samples. When applied to a human breast cancer cohort, EPIC-ATAC accurately infers the immune contexture of the main breast cancer subtypes.

Keywords: ATAC-Seq; bulk deconvolution; cancer biology; chromatin accessibility; computational biology; human; systems biology; tumor microenvironment.

MeSH terms

  • Breast Neoplasms* / genetics
  • Breast Neoplasms* / immunology
  • Chromatin / genetics
  • Chromatin / metabolism
  • Chromatin Immunoprecipitation Sequencing* / methods
  • Female
  • Humans
  • Neoplasms / genetics
  • Neoplasms / immunology
  • Tumor Microenvironment

Substances

  • Chromatin

Associated data

  • GEO/GSE74912
  • GEO/GSE118189
  • GEO/GSE172116
  • GEO/GSE101498
  • GEO/GSE99702
  • GEO/GSE179593
  • GEO/GSE146896
  • GEO/GSE136216
  • GEO/GSE150023
  • GEO/GSE153520
  • GEO/GSE163548
  • GEO/GSE145774
  • GEO/GSE164498
  • GEO/GSE184462
  • GEO/GSE129785
  • GEO/GSE139369
  • GEO/GSE173682
  • GEO/GSE193140
  • GEO/GSE193141
  • figshare/10.6084/m9.figshare.21992609.v1

Grants and funding

The funders had no role in study design, data collection and interpretation, or the decision to submit the work for publication.