Cited by 13,807Bioinformatics and Genomic NetworksBiomedical Text Mining and OntologiesGenomics and Phylogenetic Studies

The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.

The Molecular Signatures Database Hallmark Gene Set Collection

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Abstract

The Molecular Signatures Database (MSigDB) is one of the most widely used and comprehensive databases of gene sets for performing gene set enrichment analysis. Since its creation, MSigDB has grown beyond its roots in metabolic disease and cancer to include >10,000 gene sets. These better represent a wider range of biological processes and diseases, but the utility of the database is reduced by increased redundancy across, and heterogeneity within, gene sets. To address this challenge, here we use a combination of automated approaches and expert curation to develop a collection of "hallmark" gene sets as part of MSigDB. Each hallmark in this collection consists of a "refined" gene set, derived from multiple "founder" sets, that conveys a specific biological state or process and displays coherent expression. The hallmarks effectively summarize most of the relevant information of the original founder sets and, by reducing both variation and redundancy, provide more refined and concise inputs for gene set enrichment analysis.

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Crossref · 10.1016/j.cels.2015.12.004

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Metadata

Authors
Liberzon, A., Birger, C., Thorvaldsdóttir, H., Ghandi, M., Mesirov, J. P., & Tamayo, P.
Affiliations
Broad Institute (US)
Corresponding author
  • Mesirov, Jill P.
  • Tamayo, Pablo
Venue
Cell Systems
Publisher
Elsevier BV
Published
2015-12
Volume
1
Issue
6
Pages
417-425
ISSN
2405-4712 (ISSN-L)
OpenAlex
W2214074259
Cited by
13,807
References
37
Citations by year
2026: 2174 · 2025: 2294 · 2024: 2415 · 2023: 1982 · 2022: 1708 · 2021: 1298 · 2020: 926 · 2019: 534 · 2018: 270 · 2017: 154 · 2016: 44
FWCI
68.21
Type
journal article
Language
en
Open access
Locations
  • Cell Systems (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
  • eScholarship (California Digital Library) (submittedVersion)
Funders
  • National Institutes of Health
  • National Cancer Institute (R01CA154480, U54CA112962, R01CA121941)
  • National Institute of General Medical Sciences (R01GM074024)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
  • Health Sciences › Medicine › Health Informatics › Biomedical Text Mining and Ontologies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
Keywords
Hallmark gene sets, gene set enrichment analysis, biological processes, cancer hallmarks

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