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
Goh, K.-I., Cusick, M. E., Valle, D., Childs, B., Vidal, M., & Barabási, A.-L. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0701361104 · Cited by 3,242
ToppGene Suite for gene list enrichment analysis and candidate gene prioritization
Chen, J., Bardes, E. E., Aronow, B. J., & Jegga, A. G. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp427 · Cited by 2,952
Towards a proteome-scale map of the human protein–protein interaction network
Rual, J.-F. M., Venkatesan, K., Hao, T., Hirozane-Kishikawa, T., Dricot, A., Li, N., Berriz, G. F., Gibbons, F. D., Dreze, M., Ayivi-Guedehoussou, N., et al. (2005) · Nature · doi:10.1038/nature04209 · Cited by 2,904
A Gene-Coexpression Network for Global Discovery of Conserved Genetic Modules
Stuart, J. M., Segal, E., Koller, D., & Kim, S. K. (2003) · Science · doi:10.1126/science.1087447 · Cited by 2,274
Recurring mutations found by sequencing an acute myeloid leukemia genome
Mardis, E. R., Ding, L., Dooling, D. J., Larson, D. E., McLellan, M. D., Chen, K., Koboldt, D. C., Fulton, R. S., Delehaunty, K. D., McGrath, S. D., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0903840 · Cited by 2,219
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Firth, H. V., Richards, S. M., Bevan, A. P., Clayton, S., Corpas, M., Rajan, D., Vooren, S. V., Moreau, Y., Pettett, R. M., & Carter, N. P. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.03.010 · Cited by 1,990
Self-citationHuman Gene Mutation Database (HGMD®): 2003 update
Stenson, P., Ball, E. V., Mort, M., Phillips, A. D., Shiel, J. A., Thomas, N., Abeysinghe, S. S., Krawczak, M., & Cooper, D. (2003) · Human Mutation · doi:10.1002/humu.10212 · Cited by 1,887
Interactome Networks and Human Disease
Vidal, M., Cusick, M. E., & Barabási, A.-L. (2011) · Cell · doi:10.1016/j.cell.2011.02.016 · Cited by 1,771
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
den Dunnen, J. T., & Antonarakis, S. E. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200001)15:1 · Cited by 1,757
Walking the Interactome for Prioritization of Candidate Disease Genes
Köhler, S., Bauer, S., Horn, D., & Robinson, P. N. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.02.013 · Cited by 1,268
STRING: a web-server to retrieve and display the repeatedly occurring neighbourhood of a gene
Snel, . (2000) · Nucleic Acids Research · doi:10.1093/nar/28.18.3442 · Cited by 1,240
BioMart – biological queries made easy
Smedley, D. P., Haider, S. A., Ballester, B., Holland, R., London, D., Þórisson, G. Á., & Kasprzyk, A. (2009) · BMC Genomics · doi:10.1186/1471-2164-10-22 · Cited by 1,114
The human phenotype ontology: a tool for annotating and analyzing human hereditary disease
Robinson, P. N., Köhler, S., Bauer, S., Seelow, D., Horn, D., & Mundlos, S. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.09.017 · Cited by 1,034
STITCH: interaction networks of chemicals and proteins
Kuhn, M., von Mering, C., Campillos, M., Jensen, L. J., & Bork, P. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm795 · Cited by 996
A human phenome-interactome network of protein complexes implicated in genetic disorders
Lage, K., Karlberg, E., Størling, Z. M., Olason, P., Pedersen, A., Rigina, O., Hinsby, A., Tümer, Z., Pociot, F., Tommerup, N., et al. (2007) · Nature Biotechnology · doi:10.1038/nbt1295 · Cited by 973
Self-citationThe Genetic Association Database
Becker, K. G., Barnes, K. C., Bright, T. J., & Wang, S. A. (2004) · Nature Genetics · doi:10.1038/ng0504-431 · Cited by 971
Gene prioritization through genomic data fusion
Aerts, S., Lambrechts, D., Maity, S., Loo, P. V., Coessens, B., Smet, F. D., Tranchevent, L.-C., Moor, B. D., Marynen, P., Hassan, B. A., et al. (2006) · Nature Biotechnology · doi:10.1038/nbt1203 · Cited by 907
Self-citationThe Human Gene Mutation Database: 2008 update
Stenson, P. D., Mort, M., Ball, E. V., Howells, K., Phillips, A. D., Thomas, N. S., & Cooper, D. N. (2009) · Genome Medicine · doi:10.1186/gm13 · Cited by 873
Flicek, P., Amode, M. R., Barrell, D. G., Beal, K. M., Brent, S., Carvalho‐Silva, D., Clapham, P., Coates, G. M. P., Fairley, S., Fitzgerald, S. F., et al. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr991 · Cited by 842
A literature network of human genes for high-throughput analysis of gene expression
Jenssen, T.-K., Lægreid, A., Komorowski, J., & Hovig, E. J. (2001) · Nature Genetics · doi:10.1038/88213 · Cited by 839
Molecular networks as sensors and drivers of common human diseases
Schadt, E. E. (2009) · Nature · doi:10.1038/nature08454 · Cited by 814
Altshuler, D., Daly, M. J., & Kruglyak, L. (2000) · Nature Genetics · doi:10.1038/79839 · Cited by 764
Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
Lupski, J. R., Reid, J. G., Gonzaga-Jauregui, C., Rio Deiros, D., Chen, D. C. Y., Nazareth, L., Bainbridge, M., Dinh, H., Jing, C., Wheeler, D. A., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0908094 · Cited by 759 · cited 1×
“Sequencing projects for cancer and other diseases deliver huge lists of genomic variants 116,117 (such as single-nucleotide variants, insertions and deletions, and rearrangements), but it is extremely challenging to assess which variants are causative for or associated with the phenotype.”
BackgroundInparanoid: a comprehensive database of eukaryotic orthologs
O'Brien, K. P. (2004) · Nucleic Acids Research · doi:10.1093/nar/gki107 · Cited by 731
Diffusion Kernels on Graphs and Other Discrete Input Spaces
Kondor, R., & Lafferty, J. (2002) · Cited by 725
Prioritizing candidate disease genes by network-based boosting of genome-wide association dataPreprint
Lee, I., Singh-Blom, U. M., Wang, P. I., Shim, J. E., & Marcotte, E. M. (2011) · Genome Research · doi:10.1101/gr.118992.110 · Cited by 690
Critical assessment of methods of protein structure prediction (CASP) — round x
Moult, J., Fidelis, K. A., Kryshtafovych, A., Schwede, T. F., & Tramontano, A. L. (2013) · Proteins Structure Function and Bioinformatics · doi:10.1002/prot.24452 · Cited by 687
A statistical framework for genomic data fusion
Lanckriet, G. R. G., Bie, T. D., Cristianini, N., Jordan, M. I., & Noble, W. S. (2004) · Bioinformatics · doi:10.1093/bioinformatics/bth294 · Cited by 667
Prioritizing GWAS Results: A Review of Statistical Methods and Recommendations for Their Application
Cantor, R. M., Lange, K. L., & Sinsheimer, J. S. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.11.017 · Cited by 638
The human gene mutation database
Cooper, D. (1998) · Nucleic Acids Research · doi:10.1093/nar/26.1.285 · Cited by 604
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
Cooper, G. M., & Shendure, J. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3046 · Cited by 593
Annotation Transfer Between Genomes: Protein–Protein Interologs and Protein–DNA RegulogsPreprint
Yu, H., Luscombe, N. M., Lu, H. X., Zhu, X., Xia, Y., Han, J. J., Bertin, N., Chung, S., Vidal, M., & Gerstein, M. (2004) · Genome Research · doi:10.1101/gr.1774904 · Cited by 560
GoPubMed: exploring PubMed with the Gene Ontology
Doms, A., & Schroeder, M. D. (2005) · Nucleic Acids Research · doi:10.1093/nar/gki470 · Cited by 552
Overview of BioCreAtIvE: critical assessment of information extraction for biology
Hirschman, L., Yeh, A., Blaschke, C., & Valencia, A. (2005) · BMC Bioinformatics · doi:10.1186/1471-2105-6-s1-s1 · Cited by 530
Troyanskaya, O. G., Dolinski, K. J., Owen, A. B., Altman, R. B., & Botstein, D. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0832373100 · Cited by 528
Franke, L., Bakel, H. V., Fokkens, L., de Jong, E. D., Egmont-Petersen, M., & Wijmenga, C. (2006) · The American Journal of Human Genetics · doi:10.1086/504300 · Cited by 476
Flexible protein–ligand docking by global energy optimization in internal coordinates
Totrov, M. M., & Abagyan, R. A. (1997) · Proteins Structure Function and Bioinformatics · doi:10.1002/(sici)1097-0134(1997)1+ · Cited by 451
Spinazzola, A., Viscomi, C., Fernandez-Vizarra, E., Carrara, F., D'Adamo, P., Calvo, S., Marsano, R. M., Donnini, C., Weiher, H., Strisciuglio, P., et al. (2006) · Nature Genetics · doi:10.1038/ng1765 · Cited by 427
The modular nature of genetic diseases
Oti, M., & Brunner, H. G. (2006) · Clinical Genetics · doi:10.1111/j.1399-0004.2006.00708.x · Cited by 411
Edgetic perturbation models of human inherited disorders
Zhong, Q., Simonis, N., Li, Q., Charloteaux, B., Heuze, F., Klitgord, N., Tam, S., Yu, H., Venkatesan, K., Mou, D., et al. (2009) · Molecular Systems Biology · doi:10.1038/msb.2009.80 · Cited by 359
The power of protein interaction networks for associating genes with diseases
Navlakha, S., & Kingsford, C. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq076 · Cited by 355
Association of genes to genetically inherited diseases using data mining
Perez‐Iratxeta, C., Peer Bork, B., & Andrade-Navarro, M. A. (2002) · Nature Genetics · doi:10.1038/ng895 · Cited by 353
The UCSC Genome Browser database: extensions and updates 2011
Dreszer, T. R., Karolchik, D., Zweig, A. S., Hinrichs, A. S., Raney, B. J., Kuhn, R. M., Meyer, L. R., Wong, M., Sloan, C. A., Rosenbloom, K. R., et al. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr1055 · Cited by 349
Parkinson, H., Sarkans, U., Kolesnikov, N. N., Abeygunawardena, N., Burdett, T., Dyląg, M., Emam, I., Farne, A., Hastings, E., Holloway, E., et al. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq1040 · Cited by 337
The GRID: The General Repository for Interaction Datasets
Breitkreutz, B., Stark, C., & Tyers, M. (2003) · Genome biology · doi:10.1186/gb-2003-4-3-r23 · Cited by 294
Annotating the human genome with Disease Ontology
Osborne, J. D., Flatow, J., Holko, M., Lin, S. M., Kibbe, W., Zhu, L., Danila, M., Feng, G., & Chisholm, R. (2009) · BMC Genomics · doi:10.1186/1471-2164-10-s1-s6 · Cited by 291
Improved human disease candidate gene prioritization using mouse phenotype
Chen, J., Xu, H., Aronow, B. J., & Jegga, A. G. (2007) · BMC Bioinformatics · doi:10.1186/1471-2105-8-392 · Cited by 284
Pathway Mapping Tools for Analysis of High Content Data
Ekins, S., Nikolsky, Y., Bugrim, A. E., Kirillov, E., & Nikolskaya, T. (2006) · Humana Press eBooks · doi:10.1385/1-59745-217-3:319 · Cited by 266
Genome-wide identification of genes likely to be involved in human genetic disease
López-Bigas, N. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh605 · Cited by 260
Cheng, D., Knox, C., Young, N., Stothard, P., Damaraju, S., & Wishart, D. S. (2008) · Nucleic Acids Research · doi:10.1093/nar/gkn296 · Cited by 254
Speeding disease gene discovery by sequence based candidate prioritization
Adie, E. A., Adams, R. R., Evans, K. L., Porteous, D. J., & Pickard, B. S. (2005) · BMC Bioinformatics · doi:10.1186/1471-2105-6-55 · Cited by 249
Transcriptional profiling of bovine milk using RNA sequencing
Wickramasinghe, S., Rincón, G., Islas‐Trejo, A., & Medrano, J. F. F. (2012) · BMC Genomics · doi:10.1186/1471-2164-13-45 · Cited by 242
Rajab, A., Straub, V. W., McCann, L. J., Seelow, D., Varon, R., Barresi, R., Schulze, A., Lucke, B., Lützkendorf, S., Karbasiyan, M., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000874 · Cited by 237
Ebermann, I., Scholl, H. P. N., Issa, P. C., Bećirović, E., Lamprecht, J., Jurklies, B., Millán, J. M., Aller, E., Mitter, D., & Bolz, H. J. (2006) · Human Genetics · doi:10.1007/s00439-006-0304-0 · Cited by 237
Linghu, B., Snitkin, E. S., Hu, Z., Xia, Y., & DeLisi, C. (2009) · Genome biology · doi:10.1186/gb-2009-10-9-r91 · Cited by 236
Krallinger, M., Valencia, A., & Hirschman, L. (2008) · Genome Biology · doi:10.1186/gb-2008-9-s2-s8 · Cited by 231
ENDEAVOUR update: a web resource for gene prioritization in multiple species
Tranchevent, L.-C., Barriot, R., Yu, S., Vooren, S. V., Loo, P. V., Coessens, B., Moor, B. D., Aerts, S., & Moreau, Y. (2008) · Nucleic Acids Research · doi:10.1093/nar/gkn325 · Cited by 216
Self-citation“Guilt by Association” Is the Exception Rather Than the Rule in Gene Networks
Gillis, J., & Pavlidis, P. (2012) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1002444 · Cited by 214
Critical assessment of methods of protein structure prediction (CASP)—round IX
Moult, J., Fidelis, K. A., Kryshtafovych, A., & Tramontano, A. L. (2011) · Proteins Structure Function and Bioinformatics · doi:10.1002/prot.23200 · Cited by 211
Protein interactions and disease: computational approaches to uncover the etiology of diseases
Kann, M. G. (2007) · Briefings in Bioinformatics · doi:10.1093/bib/bbm031 · Cited by 202
Exploring the human genome with functional mapsPreprint
Huttenhower, C., Haley, E. M., Hibbs, M., Dumeaux, V., Barrett, D. R., Coller, H. A., & Troyanskaya, O. G. (2009) · Genome Research · doi:10.1101/gr.082214.108 · Cited by 199
Erlich, Y., Edvardson, S., Hodges, E. C., Zenvirt, S., Thekkat, P. U., Shaag, A., Dor, T., Hannon, G. J., & Elpeleg, O. N. (2011) · Genome Research · doi:10.1101/gr.117143.110 · Cited by 198
A survey of current software for network analysis in molecular biology
Thomas, S., & Bonchev, D. (2010) · Human Genomics · doi:10.1186/1479-7364-4-5-353 · Cited by 193
A guide to web tools to prioritize candidate genes
Tranchevent, L.-C., Capdevila, F. B., Nitsch, D., Moor, B. D., Causmaecker, P. D., & Moreau, Y. (2010) · Briefings in Bioinformatics · doi:10.1093/bib/bbq007 · Cited by 189
Self-citationThe Impact of Multifunctional Genes on "Guilt by Association" Analysis
Gillis, J., & Pavlidis, P. (2011) · PLoS ONE · doi:10.1371/journal.pone.0017258 · Cited by 179
G2D: a tool for mining genes associated with disease
Perez‐Iratxeta, C., Wjst, M., Peer Bork, B., & Andrade-Navarro, M. A. (2005) · BMC Genetics · doi:10.1186/1471-2156-6-45 · Cited by 178
Genetic dissection of the biotic stress response using a genome-scale gene network for rice
Lee, I., Seo, Y.-S., Coltrane, D., Hwang, S., Oh, T., Marcotte, E. M., & Ronald, P. C. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1110384108 · Cited by 176
AILUN: reannotating gene expression data automatically
Chen, R., Li, L., & Butte, A. J. (2007) · Nature Methods · doi:10.1038/nmeth1107-879 · Cited by 173
Towards a cyberinfrastructure for the biological sciences: progress, visions and challenges
Stein, L. D. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2414 · Cited by 160
Computational approaches to disease‐gene prediction: rationale, classification and successes
Piro, R. M., & Cunto, F. D. (2012) · FEBS Journal · doi:10.1111/j.1742-4658.2012.08471.x · Cited by 156
Analysis of protein sequence and interaction data for candidate disease gene prediction
George, R. A., Liu, J. Y., Feng, L. L., Bryson‐Richardson, R. J., Fatkin, D., & Wouters, M. A. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl707 · Cited by 155
Hess, D. C., Myers, C. L., Huttenhower, C., Hibbs, M., Hayes, A. P., Paw, J., Clore, J. J., Mendoza, R. M., Luis, B.-J. S., Nislow, C., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000407 · Cited by 152
Tiffin, N. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl381 · Cited by 148
Kernel-based data fusion for gene prioritization
Bie, T. D., Tranchevent, L.-C., van Oeffelen, L. M. M., & Moreau, Y. (2007) · Bioinformatics · doi:10.1093/bioinformatics/btm187 · Cited by 143
Self-citationMutation of HAIRY-AND-ENHANCER-OF-SPLIT-7 in humans causes spondylocostal dysostosis
Sparrow, D. B., Guillén‐Navarro, E., Fatkin, D., & Dunwoodie, S. L. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn272 · Cited by 140
Thiel, C. T., Horn, D., Zabel, B., Ekici, A. B., Salinas, K., Gebhart, E., Rüschendorf, F., Sticht, H., Spranger, J., Müller, D., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/497708 · Cited by 136
Bush, W. S., DUDEK, S. M., & Ritchie, M. D. (2008) · Pacific Symposium on Biocomputing (PSB) · doi:10.1142/9789812836939_0035 · Cited by 131
Prill, R. J., Sáez-Rodríguez, J., Alexopoulos, L. G., Sorger, P. K., & Stolovitzky, G. A. (2011) · Science Signaling · doi:10.1126/scisignal.2002212 · Cited by 125
GeneDistiller—Distilling Candidate Genes from Linkage Intervals
Seelow, D., Schwarz, J. M., & Schuelke, M. (2008) · PLoS ONE · doi:10.1371/journal.pone.0003874 · Cited by 118
Ma, X., Lee, H., Wang, L., & Sun, F. (2006) · Bioinformatics · doi:10.1093/bioinformatics/btl569 · Cited by 114
Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans
Thienpont, B., Zhang, L., Postma, A. V., Breckpot, J., Tranchevent, L.-C., Loo, P. V., Møllgård, K., Tommerup, N., Bache, I., Tümer, Z., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.011 · Cited by 112
Self-citationWinnenburg, R., Wachter, T., Plake, C., Doms, A., & Schroeder, M. (2008) · Briefings in Bioinformatics · doi:10.1093/bib/bbn043 · Cited by 108
Advances in translational bioinformatics: computational approaches for the hunting of disease genes
Kann, M. G. (2009) · Briefings in Bioinformatics · doi:10.1093/bib/bbp048 · Cited by 102
Human disease genes: patterns and predictions
Smith, N. G. C., & Eyre‐Walker, A. (2003) · Gene · doi:10.1016/s0378-1119(03)00772-8 · Cited by 99
van Driel, M. A., Cuelenaere, K., Kemmeren, P., Leunissen, J. A. M., & Brunner, H. G. (2003) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200918 · Cited by 95
Génie: literature-based gene prioritization at multi genomic scale
Fontaine, J., Priller, F. C., Barbosa-Silva, A., & Andrade-Navarro, M. A. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr246 · Cited by 90
OMIM passes the 1,000-disease-gene mark
Antonarakis, S. E., & McKusick, V. A. (2000) · Nature Genetics · doi:10.1038/75497 · Cited by 85
Yu, W., Wulf, A., Liu, T., Khoury, M. J., & GWINN, M. L. (2008) · BMC Bioinformatics · doi:10.1186/1471-2105-9-528 · Cited by 83
Tilstone, C. (2003) · Nature · doi:10.1038/424610a · Cited by 82
CANDID: a flexible method for prioritizing candidate genes for complex human traits
Hutz, J., Kraja, A. T., McLeod, H. L., & Province, M. A. (2008) · Genetic Epidemiology · doi:10.1002/gepi.20346 · Cited by 82
BioCreative III interactive task: an overview
Arighi, C. N., Roberts, P. M., Agarwal, S., Bhattacharya, S., Cesareni, G., Chatr‐aryamontri, A., Clematide, S., Gaudet, P., Giglio, M. G., Harrow, I., et al. (2011) · BMC Bioinformatics · doi:10.1186/1471-2105-12-s8-s4 · Cited by 82
Kaufmann, R., Straussberg, R., Mandel, H., Fattal‐Valevski, A., Ben‐Zeev, B., Naamati, A., Shaag, A., Zenvirt, S., Konen, O., Mimouni-Bloch, A., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.09.016 · Cited by 78
PINTA: a web server for network-based gene prioritization from expression data
Nitsch, D., Tranchevent, L.-C., Gonçalves, J. P., Vogt, J. K., Madeira, S. C., & Moreau, Y. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr289 · Cited by 74
Self-citationUpdate of the G2D tool for prioritization of gene candidates to inherited diseases
Perez‐Iratxeta, C., Peer Bork, B., & Andrade-Navarro, M. A. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm223 · Cited by 73
In Silico Gene Prioritization by Integrating Multiple Data Sources
Chen, Y., Wang, W., Zhou, Y., Shields, R., Chanda, S. K., Elston, R. C., & Li, J. (2011) · PLoS ONE · doi:10.1371/journal.pone.0021137 · Cited by 67
(2010) · Methods in molecular biology · doi:10.1007/978-1-60761-987-1 · Cited by 59
Linking genes to diseases: it's all in the data
Tiffin, N., Andrade-Navarro, M. A., & Perez‐Iratxeta, C. (2009) · Genome Medicine · doi:10.1186/gm77 · Cited by 54
A strategy to search for common obesity and type 2 diabetes genes
Elbers, C. C., Onland‐Moret, N. C., Franke, L., Niehoff, A. G., van der Schouw, Y. T., & Wijmenga, C. (2006) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2006.11.003 · Cited by 51
Yoshida, Y., Makita, Y., Heida, N. K. N., Asano, S., Matsushima, A., Ishii, M., Mochizuki, Y., Masuya, H., Wakana, S., Kobayashi, N., et al. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp384 · Cited by 47
The Biological Coherence of Human Phenome Databases
Oti, M., Huynen, M. A., & Brunner, H. G. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.10.026 · Cited by 45
Hwang, S., Rhee, S. Y., Marcotte, E. M., & Lee, I. (2011) · Nature Protocols · doi:10.1038/nprot.2011.372 · Cited by 44
Baron, D., Bihouée, A., Teusan, R., Dubois, E., Savagner, F., Steenman, M., Houlgatte, R., & Ramstein, G. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btq710 · Cited by 43
Huttenhower, C., Hibbs, M., Myers, C. L., Caudy, A. A., Hess, D. C., & Troyanskaya, O. G. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp397 · Cited by 42
Pers, T. H., Hansen, N. T., Lage, K., Koefoed, P., Dworzyński, P., Miller, M. L., Flint, T. J., Mellerup, E. T., Dam, H., Andreassen, O. A., et al. (2011) · Genetic Epidemiology · doi:10.1002/gepi.20580 · Cited by 38
Genes to Diseases (G2D) Computational Method to Identify Asthma Candidate Genes
Tremblay, K., Lemire, M., Potvin, C., Tremblay, A., Hunninghake, G. M., Raby, B. A., Hudson, T. J., Perez‐Iratxeta, C., Andrade-Navarro, M. A., & Laprise, C. (2008) · PLoS ONE · doi:10.1371/journal.pone.0002907 · Cited by 37
Teber, E., Liu, J. Y., Ballouz, S., Fatkin, D., & Wouters, M. A. (2009) · BMC Bioinformatics · doi:10.1186/1471-2105-10-s1-s69 · Cited by 36
Prioritization of Positional Candidate Genes Using Multiple Web-Based Software Tools
Thornblad, T., Elliott, K., Jowett, J. B. M., & Visscher, P. M. (2007) · Twin Research and Human Genetics · doi:10.1375/twin.10.6.861 · Cited by 33
HHEX gene polymorphisms are associated with type 2 diabetes in the Dutch Breda cohort
van Vliet‐Ostaptchouk, J. V., Onland‐Moret, N. C., van Haeften, T. W., Franke, L., Elbers, C. C., Shiri‐Sverdlov, R., van der Schouw, Y. T., Hofker, M. H., & Wijmenga, C. (2008) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5202008 · Cited by 33
Large-scale benchmark of Endeavour using MetaCore maps
Schuierer, S., Tranchevent, L.-C., Dengler, U., & Moreau, Y. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq307 · Cited by 32
Self-citationIntegrating Computational Biology and Forward Genetics in Drosophila
Aerts, S., Vilain, S., Hu, S., Tranchevent, L., Barriot, R., Yan, J.-K., Moreau, Y., Hassan, B. A., & Quan, X.-J. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000351 · Cited by 31
Self-citationCollaboratively charting the gene-to-phenotype network of human congenital heart defects
Barriot, R., Breckpot, J., Thienpont, B., Brohée, S., Vooren, S. V., Coessens, B., Tranchevent, L.-C., Loo, P. V., Gewillig, M. H. M. L., Devriendt, K., et al. (2010) · Genome Medicine · doi:10.1186/gm137 · Cited by 30
Self-citationRacine, J., Gerber, V., Feutz, M. M., Riley, C. P., Adamec, J., Swinburne, J. E., & Couëtil, L. L. (2011) · BMC Veterinary Research · doi:10.1186/1746-6148-7-48 · Cited by 29
TEAM: a tool for the integration of expression, and linkage and association maps
Franke, L., van Bakel, H., Diosdado, B., van Belzen, M., Wapenaar, M. C., & Wijmenga, C. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201215 · Cited by 28
Mapping biomedical concepts onto the human genome by mining literature on chromosomal aberrations
Vooren, S. V., Thienpont, B., Menten, B., Speleman, F., Moor, B. D., Vermeesch, J. R., & Moreau, Y. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm054 · Cited by 27
Self-citationTranslational disease interpretation with molecular networks
Baudot, A., Goméz-López, G., & Valencia, A. (2009) · Genome biology · doi:10.1186/gb-2009-10-6-221 · Cited by 27
Qiao, Y., Harvard, C., Tyson, C., Liu, X., Fawcett, C., Pavlidis, P., Holden, J. J. A., Lewis, M. E. S., & Rajcan‐Separovic, E. (2010) · Human Genetics · doi:10.1007/s00439-010-0837-0 · Cited by 27
Britto, R., Sallou, O., Collin, O., Michaux, G., Primig, M., & Chalmel, F. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks380 · Cited by 25
Web Tools for the Prioritization of Candidate Disease Genes
Oti, M., Ballouz, S., & Wouters, M. A. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-176-5_12 · Cited by 20
Call to work together on microarray data analysis
Johnson, K., & Lin, S. M. (2001) · Nature · doi:10.1038/35082237 · Cited by 18
Keyser, R. J., Oppon, E., Carr, J. A., & Bardien, S. (2011) · Journal of Neural Transmission · doi:10.1007/s00702-011-0591-z · Cited by 15
Conceptual Thinking for In Silico Prioritization of Candidate Disease Genes
Tiffin, N. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-176-5_11 · Cited by 10
Text Mining for Systems Modeling
Kowald, A., & Schmeier, S. (2010) · Methods in molecular biology · doi:10.1007/978-1-60761-987-1_19 · Cited by 6
Casci, T. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3007 · Cited by 1
Cited by
Sorted by citations
STRING v9.1: protein-protein interaction networks, with increased coverage and integration
Franceschini, A., Szklarczyk, D., Frankild, S., Kuhn, M., Simonovic, M., Roth, A., Lin, J., Minguez, P., Bork, P., von Mering, C., et al. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks1094 · Cited by 4,398
Integrative omics for health and disease
Karczewski, K. J., & Snyder, M. P. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2018.4 · Cited by 1,158
Biological interpretation of genome-wide association studies using predicted gene functions
Pers, T. H., Karjalainen, J. M., Chan, Y., Westra, H.-J., Wood, A. R., Yang, J., Lui, J. C., Vedantam, S., Gustafsson, S., Esko, T., et al. (2015) · Nature Communications · doi:10.1038/ncomms6890 · Cited by 787
“and converting the adjusted z-score to a P value; and (3) repeating steps 1 and 2 twenty times to estimate experiment-wide FDRs similar to the method described above.”
BackgroundMethodHuman symptoms–disease network
Zhou, X., Menche, J., Barabási, A.-Ĺ., & Sharma, A. (2014) · Nature Communications · doi:10.1038/ncomms5212 · Cited by 659
“Interestingly, the inclusion of disease phenotype similarities can substantially improve the performance of candidate gene prediction methods 21–24 .”
BackgroundNext-generation diagnostics and disease-gene discovery with the Exomiser
Smedley, D., Jacobsen, J. O. B., Jäger, M., Köhler, S., Holtgrewe, M., Schubach, M., Siragusa, E., Zemojtel, T., Buske, O. J., Washington, N. L., et al. (2015) · Nature Protocols · doi:10.1038/nprot.2015.124 · Cited by 445
“…data sets, including expression data, genetic sequences, functional annotations, protein-protein interaction networks and information from the medical literature in order to derive a ranked list of genes that provide investigators clues about those genes that warrant closer investigation 14 .”
Background
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