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Integrative pathway enrichment analysis of multivariate omics data.

Published version
Peer-reviewed

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Authors

Paczkowska, Marta 
Barenboim, Jonathan 
Sintupisut, Nardnisa 
Fox, Natalie S 
Zhu, Helen 

Abstract

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.

Description

Funder: BioTalent Canada Student Internship


Funder: Canadian Institutes of Health Research (CIHR) Canadian Graduate Scholarship


Funder: Ontario Institute for Cancer Research (OICR) Investigator Awards provided by the Government of Ontario; Terry Fox Research Institute (TFRI) and Canadian Institutes of Health Research (CIHR) New Investigator Awards.

Keywords

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

Journal Title

Nat Commun

Conference Name

Journal ISSN

2041-1723
2041-1723

Volume Title

11

Publisher

Springer Science and Business Media LLC