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Åke Borg

Åke Borg

Principal investigator

Åke Borg

Integrative pathway enrichment analysis of multivariate omics data


  • Marta Paczkowska
  • Jonathan Barenboim
  • Nardnisa Sintupisut
  • Natalie S Fox
  • Helen Zhu
  • Diala Abd-Rabbo
  • Miles W Mee
  • Paul C Boutros
  • Jüri Reimand

Other contributions

  • Åke Borg
  • Markus Ringnér
  • Johan Staaf

Summary, in English

Multi-omics datasets represent distinct aspects of the central dogma of molecular biology. Such high-dimensional molecular profiles pose challenges to data interpretation and hypothesis generation. ActivePathways is an integrative method that discovers significantly enriched pathways across multiple datasets using statistical data fusion, rationalizes contributing evidence and highlights associated genes. As part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancers across 38 tumor types, we integrated genes with coding and non-coding mutations and revealed frequently mutated pathways and additional cancer genes with infrequent mutations. We also analyzed prognostic molecular pathways by integrating genomic and transcriptomic features of 1780 breast cancers and highlighted associations with immune response and anti-apoptotic signaling. Integration of ChIP-seq and RNA-seq data for master regulators of the Hippo pathway across normal human tissues identified processes of tissue regeneration and stem cell regulation. ActivePathways is a versatile method that improves systems-level understanding of cellular organization in health and disease through integration of multiple molecular datasets and pathway annotations.


  • LUCC: Lund University Cancer Centre
  • Familial Breast Cancer
  • Breastcancer-genetics
  • Molecular Cell Biology
  • Breast/lungcancer
  • Research Group Lung Cancer

Publishing year





Nature Communications



Document type

Journal article


Nature Publishing Group


  • Medical Genetics


  • Adenocarcinoma/genetics
  • Apoptosis/genetics
  • Breast Neoplasms/genetics
  • Chromatin Immunoprecipitation
  • Computational Biology/methods
  • Databases, Factual
  • Female
  • Gene Dosage
  • Gene Expression Profiling
  • Gene Regulatory Networks
  • Genomics/methods
  • Hippo Signaling Pathway
  • Humans
  • Metabolic Networks and Pathways/genetics
  • Mutation
  • Neoplasms/genetics
  • Prognosis
  • Protein Serine-Threonine Kinases/genetics
  • RNA, Messenger/genetics
  • Sequence Analysis, RNA
  • Signal Transduction



Research group

  • Familial Breast Cancer
  • Research Group Lung Cancer


  • ISSN: 2041-1723