The DOI matches its Crossref record; 133 of the 134 references it cites were found in a registry or an index.
Computational tools for prioritizing candidate genes: boosting disease gene discovery
Abstract
At different stages of any research project, molecular biologists need to choose - often somewhat arbitrarily, even after careful statistical data analysis - which genes or proteins to investigate further experimentally and which to leave out because of limited resources. Computational methods that integrate complex, heterogeneous data sets - such as expression data, sequence information, functional annotation and the biomedical literature - allow prioritizing genes for future study in a more informed way. Such methods can substantially increase the yield of downstream studies and are becoming invaluable to researchers.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Topology-based methods have been shown to capture and leverage the dynamics of biological systems to enrich existing PPI networks [119].”
From Graph representation learning in biomedicine and healthcare (2022) · cites this paper as [119]
Citations
Cites
Subramanian, A., Tamayo, P., Mootha, V. K., Mukherjee, S., Ebert, B. L., Gillette, M. A., Paulovich, A., Pomeroy, S. L., Golub, T. R., Lander, E. S., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0506580102 · Cited by 53,625
Cytoscape: A software Environment for integrated models of biomolecular interaction networks
Shannon, P., Markiel, A., Ozier, O., Baliga, N. S., Wang, J. T., Ramage, D., Amin, N., Schwikowski, B., & Ideker, T. (2003) · Genome Research · doi:10.1101/gr.1239303 · Cited by 51,888
Gene Ontology: tool for the unification of biology
Ashburner, M., Ball, C. A., Blake, J. A., Botstein, D., Butler, H., Cherry, J. M., Davis, A. P., Dolinski, K., Dwight, S. S., Eppig, J. T., et al. (2000) · Nature Genetics · doi:10.1038/75556 · Cited by 43,206
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
Huang, D. W., Sherman, B. T., & Lempicki, R. A. (2009) · Nature Protocols · doi:10.1038/nprot.2008.211 · Cited by 35,890
Huang, D. W., Sherman, B. T., & Lempicki, R. A. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkn923 · Cited by 14,108
Gene Expression Omnibus: NCBI gene expression and hybridization array data repository
Edgar, R. (2002) · Nucleic Acids Research · doi:10.1093/nar/30.1.207 · Cited by 13,288
A Study of Cross-Validation and Bootstrap for Accuracy Estimation and Model Selection
Kohavi, R. (1995) · Zenodo · doi:10.5281/zenodo.19712698 · Cited by 10,909
Network medicine: a network-based approach to human disease
Barabási, A.-L., Gulbahce, N., & Loscalzo, J. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2918 · Cited by 5,034
KEGG for integration and interpretation of large-scale molecular data sets
Kanehisa, M., Goto, S., Sato, Y., Furumichi, M., & Tanabe, M. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr988 · Cited by 4,848
Szklarczyk, D., Franceschini, A., Kuhn, M., Simonovic, M., Roth, A. C., Mínguez, P., Doerks, T., Stark, M., Muller, J., Bork, P., et al. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq973 · Cited by 3,469
Flagged first, then by citations
1 of the 134 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Items 401–418 of 418
Translating genetics into genomics: From QTL identification to candidate gene discovery in rice
Raza, Q. S., Sabar, M., Rashid, M. A. R., & Atif, R. M. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-85243-2.00016-7
Pathogenicity predicting algorithm of single amino acid variants
Bai, K., Liu, Z., Lv, X., Li, D., Chen, X., Li, X., & Zhou, J. (2022) · International Conference on Computational Intelligence and Security (CIS) · doi:10.1109/cis58238.2022.00034
“Another mainstream approach is to evaluate the physical interactions between genes and numerous known disease-related genes including sequence homology, shared functional annotation, co-expression, and gene product interactions [7].”
BackgroundDynamic computing budget allocation for design ranking in stochastic complex systems
Hui, X. I. A. O., Zhihong, W. E. I., Gang, K. O. U., & Xianming, G. U. (2023) · Scientia Sinica Informationis · doi:10.1360/ssi-2022-0451
Linking genes to traits in Arabidopsis using systems genetics
Hartanto, M. (2023) · doi:10.18174/641121
Milano, M. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-95502-7.00065-8
Gene Prioritization Using Semantic Similarity
Pranckevičienė, E. (2019) · Elsevier eBooks · doi:10.1016/b978-0-323-95502-7.00346-8
Chang, H.-C., Chu, C.-P., Lin, S.-J., & Hsiao, C. K. (2020) · Figshare · doi:10.6084/m9.figshare.11978499
Ji, Y., Chen, R., Wang, Q., Wei, Q., Tao, R., & Li, B. (2022) · Figshare · doi:10.6084/m9.figshare.19642045
Chang, H.-C., Chu, C.-P., Lin, S.-J., & Hsiao, C. K. (2020) · Figshare · doi:10.6084/m9.figshare.11978502
Atrial fibrillation: genetic architecture and polygenic risk prediction
Yuan, S., Levin, M. G., & Larsson, S. C. (2026) · Heart · doi:10.1136/heartjnl-2025-326870
“26 Systematic functional validation is therefore needed.”
Étude de l'histoire évolutive des gènes dans les génomes de vertébrés
Péres, A. (2015) · theses.fr (ABES) · doi:10.70675/48d1b8e7z25eez400fzaef9zbe8da8ab3bcc
Système de recommandation basé sur les réseaux pour l'interprétation de résultats de métabolomique
Frainay, C. (2017) · theses.fr (ABES) · doi:10.70675/9839b5d1z7786z4d9dza0a1zb1cc016d9abc
Nath, S., Illa, S. K., Yata, V. K., Shukla, R., & Kolliputi, N. (2026) · Frontiers in Genetics · doi:10.3389/fgene.2026.1774902
“Genes prioritized by the exploratory ranking procedure were highlighted within the network to facilitate biological interpretation of the candidate region (Harrow et al., 2012; Moreau and Tranchevent, 2012; Lawrence et al., 2013; R Core Team, 2020).”
Zhao, Q., Zheng, H., Zhang, Y., Bi, J., & Sun, T. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.08.10.743862
“…genes, high-centrality nodes have long been read as the functionally most important [BarabÆsi and Albert, 1999, Albert, 2005, Jeong et al., 2001], a premise built into candidate-gene prioritisation and function-prediction pipelines alike [Moreau and Tranchevent, 2012, Mostafavi et al., 2008].”
Wang, Y., He, H., & Xin, Q. (2026) · Next research. · doi:10.1016/j.nexres.2026.102372
FAIRsharing record for: Biomedical Entity Expansion, Ranking, and Explorations
FAIRsharing Team, & Yue, Z. (2018) · FAIRsharing.org · doi:10.25504/fairsharing.f3dla1
HOODS: finding context-specific neighborhoods of proteins, chemicals and diseases
Pallejá, A., & Jensen, L. J. (2015) · PeerJ · doi:10.7717/peerj.1057
“We tested the performance of our algorithm on this task only to prove that it produces neighborhoods that are significantly better than random; it is not intended to compete with the many existing tools specifically designed for prioritizing disease genes (reviewed in Moreau & Tranchevent, 2012).”
MethodPranckevičienė, E. (2015) · uO Research (University of Ottawa) · doi:10.20381/ruor-2702
“If prioritization is being assessed with respect to ranking the whole genome, then the criterion of the top 5%-15% ranked genome genes containing a small subset of the test genes is also suggested as indicator of good performance [Moreau and Tranchevent, 2012].”
BackgroundMethodResultInfluential
Metadata
- Authors
- Moreau, Y., & Tranchevent, L.-C.
- Affiliations
- KU Leuven (BE)
- Corresponding author
- Moreau, Yves
- Tranchevent, Léon-Charles
- Venue
- Nature Reviews Genetics
- Published
- 2012-07-03
- Volume
- 13
- Issue
- 8
- Pages
- 523-536
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2090247362
- Cited by
- 417
- References
- 134
- Citations by year
- 2026: 5 · 2025: 4 · 2024: 6 · 2023: 15 · 2022: 19 · 2021: 21 · 2020: 31 · 2019: 36 · 2018: 36 · 2017: 42 · 2016: 45 · 2015: 49 · 2014: 52 · 2013: 41 · 2012: 15
- FWCI
- 4.58
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- FP7 Health
- 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 › Genetics › Genomics and Rare Diseases
- Keywords
- gene prioritization, candidate genes, disease gene discovery, computational tools, heterogeneous data integration, expression data, functional annotation, biomedical text mining, genetic linkage, omics data
- MeSH terms
- Animals, Humans, Models, Genetic, Computational Biology, Genetic Predisposition to Disease, Databases, Genetic, Mice, Genetic Association Studies, Haploinsufficiency
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review