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DisCP-Atlas: a comprehensive resource mapping cellular processes to complex diseases.

Frank Qingyun Wang1, Caicai Zhang1, Hangchen Zhang2

  • 1Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong 999077, China.

Nucleic Acids Research
|November 3, 2025
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Summary

DisCP-Atlas links complex diseases to underlying cellular processes using single-cell RNA sequencing data. This resource helps uncover genetic risk mechanisms by mapping genome-wide association study findings to continuous cell states.

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Area of Science:

  • Genomics
  • Systems Biology
  • Computational Biology

Background:

  • Genome-wide association studies (GWAS) identify disease loci but struggle with biological mechanism translation.
  • Single-cell RNA sequencing (scRNA-seq) offers cellular resolution but current resources link diseases to discrete cell types, missing continuous cellular processes.
  • Genetic risk is driven by gene expression programs within cellular processes that transcend traditional cell type boundaries.

Purpose of the Study:

  • To develop DisCP-Atlas, a comprehensive resource mapping cellular processes to complex diseases.
  • To provide a novel framework for understanding disease mechanisms by focusing on cellular processes rather than just cell types.
  • To enable bidirectional querying of diseases to cellular processes and vice versa.

Main Methods:

  • Derived 990 cellular processes from 57 scRNA-seq datasets across 35 human tissues, annotated by pathway enrichment and cell type activity.
  • Utilized the sc-linker framework to systematically link 1072 GWAS datasets (759 diseases) to identified cellular processes.
  • Developed interactive visualizations and an online enrichment tool for data exploration and custom gene analysis.

Main Results:

  • Identified 37,918 significant associations between cellular processes and diseases.
  • DisCP-Atlas enables users to query diseases for underlying cellular processes or identify diseases linked to specific cellular programs.
  • The resource provides downloadable results and an interactive online enrichment tool for custom gene set analysis.

Conclusions:

  • DisCP-Atlas bridges the gap between GWAS findings and biological mechanisms by focusing on cellular processes.
  • This resource facilitates a deeper understanding of genetic risk in complex diseases.
  • DisCP-Atlas offers a valuable, accessible platform for researchers to explore disease-associated cellular programs.