Local epigenomic state cannot discriminate interacting and non-interacting enhancer–promoter pairs with high accuracy
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Abstract
We report an experimental design issue in recent machine learning formulations of the enhancer-promoter interaction problem arising from the fact that many enhancer-promoter pairs share features. Cross-fold validation schemes which do not correctly separate these feature sharing enhancer-promoter pairs into one test set report high accuracy, which is actually arising from high training set accuracy and a failure to properly evaluate generalization performance. Cross-fold validation schemes which properly segregate pairs with shared features show markedly reduced ability to predict enhancer-promoter interactions from epigenomic state. Parameter scans with multiple models indicate that local epigenomic features of individual pairs of enhancers and promoters cannot distinguish those pairs that interact from those which do with high accuracy, suggesting that additional information is required to predict enhancer-promoter interactions.
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Whalen and colleagues showed TargetFinder results measured only by F1 score, making it impossible to detect the actual true positive rate and true negative rate of their tests.
“For example, when Whalen and colleagues released TargetFinder, a tool to predict enhancer-promoters interactions in genomics, they showed its results measured only by F1 score [13], making it impossible to detect the actual true positive rate and true negative rate of their tests [69].”
From The advantages of the Matthews correlation coefficient (MCC) over F1 score and accuracy in binary classification evaluation (2020) · cites this paper as [69]
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References 5 · Cited by 68
- Authors
- Xi, W., & Beer, M. A.
- Affiliations
- Johns Hopkins University (US)
- Corresponding author
- Beer, Michael A.
- ORCID
- Beer, Michael A.
- Venue
- PLOS Computational Biology
- Publisher
- Public Library of Science (PLoS)
- Published
- 2018-12-18
- Volume
- 14
- Issue
- 12
- Pages
- e1006625
- ISSN
- 1553-734X (ISSN-L)
- 1553-7358
- PMC
- PMC6298642
- OpenAlex
- W2949423586
- Cited by
- 68
- References
- 5
- Citations by year
- 2026: 5 · 2025: 7 · 2024: 7 · 2023: 6 · 2022: 2 · 2021: 12 · 2020: 16 · 2019: 12
- FWCI
- 3.56
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- PLoS Computational Biology (publishedVersion, cc-by)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- Funders
- National Institutes of Health
- National Human Genome Research Institute (U01HG009380, R01HG007348)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Gene Regulatory Network Analysis
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Keywords
- enhancer-promoter interactions, feature sharing, generalization performance, machine learning model evaluation
- MeSH terms
- Machine Learning, Cell Line, Enhancer Elements, Genetic, Humans, Models, Genetic, Promoter Regions, Genetic, Computational Biology, K562 Cells, Epigenesis, Genetic, Support Vector Machine
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