Three-dimensional reconstruction of protein networks provides insight into human genetic disease
Open accessAbstract
To better understand the molecular mechanisms and genetic basis of human disease, we systematically examine relationships between 3,949 genes, 62,663 mutations and 3,453 associated disorders by generating a three-dimensional, structurally resolved human interactome. This network consists of 4,222 high-quality binary protein-protein interactions with their atomic-resolution interfaces. We find that in-frame mutations (missense point mutations and in-frame insertions and deletions) are enriched on the interaction interfaces of proteins associated with the corresponding disorders, and that the disease specificity for different mutations of the same gene can be explained by their location within an interface. We also predict 292 candidate genes for 694 unknown disease-to-gene associations with proposed molecular mechanism hypotheses. This work indicates that knowledge of how in-frame disease mutations alter specific interactions is critical to understanding pathogenesis. Structurally resolved interaction networks should be valuable tools for interpreting the wealth of data being generated by large-scale structural genomics and disease association studies.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
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?
Missense mutations are often linked to various human diseases, such as cancer.
“Missense mutations are often linked to various human diseases,1 such as cancer.”
From iSEE: Interface structure, evolution, and energy-based machine learning predictor of binding affinity changes upon mutations (2019) · cites this paper as [1]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
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 · see citing works
Berman, H. M. (2000) · Nucleic Acids Research · doi:10.1093/nar/28.1.235 · Cited by 40,196 · see citing works
The Pfam Protein Families Database
Bateman, A. G. (2002) · Nucleic Acids Research · doi:10.1093/nar/30.1.276 · Cited by 14,062 · see citing works
Exploration, normalization, and summaries of high density oligonucleotide array probe level data
Irizarry, R. A. (2003) · Biostatistics · doi:10.1093/biostatistics/4.2.249 · Cited by 10,603 · see citing works
Adjusting batch effects in microarray expression data using empirical Bayes methods
Johnson, W. E., Li, C., & Rabinovic, A. (2007) · Biostatistics · doi:10.1093/biostatistics/kxj037 · Cited by 8,658 · see citing works
A map of human genome variation from population-scale sequencing.
The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877 · see citing works
The Universal Protein Resource (UniProt)
Bairoch, A. (2004) · Nucleic Acids Research · doi:10.1093/nar/gki070 · Cited by 3,774 · see citing works
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 · see citing works
Human Protein Reference Database--2009 update
Prasad, T. S. K., Goel, R., Kandasamy, K., Keerthikumar, S., Kumar, S., Mathivanan, S., Telikicherla, D., Raju, R., Shafreen, R. B., Venugopal, A., et al. (2008) · Nucleic Acids Research · doi:10.1093/nar/gkn892 · Cited by 3,241 · see citing works
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 2,937 · see citing works
The Pfam protein families database
Finn, R. D., Mistry, J., Tate, J., Coggill, P., Heger, A., Pollington, J. E., Gavin, O. L., Gunasekaran, P., Ceric, G., Forslund, K., et al. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkp985 · Cited by 2,694 · see citing works
A Human Protein-Protein Interaction Network: A Resource for Annotating the Proteome
Stelzl, U., Worm, U., Lalowski, M. M., Haenig, C., Brembeck, F. H., Goehler, H., Strödicke, M., Zenkner, M., Schoenherr, A., Koeppen, S., et al. (2005) · Cell · doi:10.1016/j.cell.2005.08.029 · Cited by 2,389 · see citing works
The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)
Vasen, H. F. A., Mecklin, J., Khan, P. M., & Lynch, H. T. (1991) · Diseases of the Colon & Rectum · doi:10.1007/bf02053699 · Cited by 2,146 · see citing works
Yang, A., Kaghad, M., Wang, Y., Gillett, E. S., Fleming, M. D., Dötsch, V., Andrews, N. C., Caput, D., & McKeon, F. (1998) · Molecular Cell · doi:10.1016/s1097-2765(00)80275-0 · Cited by 2,086 · see citing works
Normalization of cDNA microarray data
Smyth, G. K., & Speed, T. (2003) · Methods · doi:10.1016/s1046-2023(03)00155-5 · Cited by 1,871 · see citing works
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 · see citing works
Yıldırım, M. A., Goh, K.-I., Cusick, M. E., Barabási, A.-Ĺ., & Vidal, M. (2007) · Nature Biotechnology · doi:10.1038/nbt1338 · Cited by 1,711 · see citing works
Exome sequencing as a tool for Mendelian disease gene discovery
Bamshad, M. J., Ng, S. B. H., Bigham, A. W., Tabor, H. K., Emond, M. J., Nickerson, D. A., & Shendure, J. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3031 · Cited by 1,659 · see citing works
Whitfield, M. L., Sherlock, G., Saldanha, A. J., Murray, J. I., Ball, C. A., Alexander, K. E., Matese, J. C., Perou, C. M., Hurt, M. M., Brown, P. O., et al. (2002) · Molecular Biology of the Cell · doi:10.1091/mbc.02-02-0030 · Cited by 1,527 · see citing works
Large-scale analysis of the human and mouse transcriptomes
Su, A. I., Cooke, M. P., Ching, K. A., Hakak, Y., Walker, J. R., Wiltshire, T., Orth, A. P., Vega, R. G., Sapinoso, L. M., Moqrich, A., et al. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.012025199 · Cited by 1,466 · see citing works
High-Quality Binary Protein Interaction Map of the Yeast Interactome Network
Yu, H., Braun, P., Yıldırım, M. A., Lemmens, I., Venkatesan, K., Sahalie, J., Hirozane-Kishikawa, T., Gebreab, F., Li, N., Simonis, N., et al. (2008) · Science · doi:10.1126/science.1158684 · Cited by 1,392 · see citing works
Self-citationAtypical Hemolytic–Uremic Syndrome
Noris, M., & Remuzzi, G. (2009) · New England Journal of Medicine · doi:10.1056/nejmra0902814 · Cited by 1,339 · see citing works
An empirical framework for binary interactome mapping
Venkatesan, K., Rual, J.-F. M., Vázquez, A., Stelzl, U., Lemmens, I. H., Hirozane-Kishikawa, T., Hao, T., Zenkner, M., Xin, X., Goh, K. I., et al. (2008) · Nature Methods · doi:10.1038/nmeth.1280 · Cited by 907 · see citing works
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 · see citing works
Autoinhibition and activation mechanisms of the Wiskott–Aldrich syndrome protein
Kim, A. S., Kakalis, L. T., Abdul-Manan, N., Liu, G. A., & Rosen, M. K. (2000) · Nature · doi:10.1038/35004513 · Cited by 752 · see citing works
Peltomäki, P., & Vasen, H. F. A. (1997) · Gastroenterology · doi:10.1053/gast.1997.v113.pm9322509 · Cited by 746 · see citing works
McKusick's Online Mendelian Inheritance in Man (OMIM(R))
Amberger, J., Bocchini, C. A., Scott, A. F., & Hamosh, A. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkn665 · Cited by 717 · see citing works
The BioGRID Interaction Database: 2008 update
Breitkreutz, B., Stark, C., Reguly, T., Boucher, L., Breitkreutz, A., Livstone, M. S., Oughtred, R., Lackner, D. H., Bähler, J., Wood, V., et al. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm1001 · Cited by 698 · see citing works
dbSNP: a database of single nucleotide polymorphisms
Smigielski, E. M. (2000) · Nucleic Acids Research · doi:10.1093/nar/28.1.352 · Cited by 623 · see citing works
The IntAct molecular interaction database in 2010
Aranda, B., Achuthan, P., Alam-Faruque, Y., Armean, I., Bridge, A., Derow, C., Feuermann, M., Ghanbarian, A. T., Kerrien, S., Khadake, J., et al. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkp878 · Cited by 620 · see citing works
Predicting disease genes using protein–protein interactions
Oti, M., Snel, ., Huynen, M. A., & Brunner, H. G. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.041376 · Cited by 574 · see citing works
The Universal Protein Resource (UniProt)
The UniProt Consortium (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl929 · Cited by 572 · see citing works
Guilt-by-association goes global
Oliver, S. (2000) · Nature · doi:10.1038/35001165 · Cited by 557 · see citing works
MINT, the molecular interaction database: 2009 update
Ceol, A. G. M., Chatr‐aryamontri, A., Licata, L., Peluso, D., Briganti, L., Perfetto, L., Castagnoli, L., & Cesareni, G. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp983 · Cited by 507 · see citing works
Higgs, H. N., & Pollard, T. D. (2000) · The Journal of Cell Biology · doi:10.1083/jcb.150.6.1311 · Cited by 505 · see citing works
Relating Three-Dimensional Structures to Protein Networks Provides Evolutionary Insights
Kim, P. M., Lu, L. J., Xia, Y., & Gerstein, M. (2006) · Science · doi:10.1126/science.1136174 · Cited by 473 · see citing works
WASP: a key immunological multitasker
Thrasher, A. J., & Burns, S. O. (2010) · Nature reviews. Immunology · doi:10.1038/nri2724 · Cited by 408 · see citing works
The Impact of Structural Genomics: Expectations and Outcomes
Chandonia, J., & Brenner, S. E. (2006) · Science · doi:10.1126/science.1121018 · Cited by 377 · see citing works
Systematic Discovery of New Recognition Peptides Mediating Protein Interaction Networks
Neduva, V., Linding, R., Su-Angrand, I., Stark, A., Masi, F. D., Gibson, T. J., Lewis, J., Serrano, L., & Russell, R. B. (2005) · PLoS Biology · doi:10.1371/journal.pbio.0030405 · Cited by 359 · see citing works
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 · see citing works
Self-citationLiterature-curated protein interaction datasets
Cusick, M. E., Yu, H., Smolyar, A., Venkatesan, K., Carvunis, A., Simonis, N., Rual, J.-F. M., Borick, H., Falter‐Braun, P., Dreze, M., et al. (2008) · Nature Methods · doi:10.1038/nmeth.1284 · Cited by 307 · see citing works
Self-citationiPfam: visualization of protein–protein interactions in PDB at domain and amino acid resolutions
FINN, R., Marshall, M. S., & Bateman, A. G. (2004) · Bioinformatics · doi:10.1093/bioinformatics/bti011 · Cited by 305 · see citing works
Network properties of genes harboring inherited disease mutations
Feldman, I., Rzhetsky, A., & Vitkup, D. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0701722105 · Cited by 295 · see citing works
A systems approach to prion disease
Hwang, D., Lee, I. Y., Yoo, H., Gehlenborg, N., Cho, J., Petritis, B., Baxter, D., Pitstick, R., Young, R., Spicer, D., et al. (2009) · Molecular Systems Biology · doi:10.1038/msb.2009.10 · Cited by 287 · see citing works
hORFeome v3.1: A resource of human open reading frames representing over 10,000 human genes
Lamesch, P., Li, N., Milstein, S., Fan, C., Hao, T., Szabo, G., Hu, Z., Venkatesan, K., Bethel, G., Martin, P., et al. (2007) · Genomics · doi:10.1016/j.ygeno.2006.11.012 · Cited by 272 · see citing works
Next-generation sequencing to generate interactome datasets
Yu, H., Tardivo, L., Tam, S., Weiner, E., Gebreab, F., Fan, C., Svrzikapa, N., Hirozane-Kishikawa, T., Rietman, E. A., Yang, X., et al. (2011) · Nature Methods · doi:10.1038/nmeth.1597 · Cited by 254 · see citing works
Self-citationNetwork-based methods for human disease gene prediction
Wang, X., Gulbahce, N., & Yu, H. (2011) · Briefings in Functional Genomics · doi:10.1093/bfgp/elr024 · Cited by 241 · see citing works
Self-citationAncliff, P. J., Blundell, M. P., Cory, G. O. C., et al. (2006) · Blood · doi:10.1182/blood-2006-01-010249 · Cited by 232 · see citing works
Refined solution structure of the oligomerization domain of the tumour suppressor p53
Clore, G. M., Ernst, J. A., Clubb, R. T., Omichinski, J. G., Kennedy, W. P., Sakaguchi, K., Appella, E., & Gronenborn, A. M. (1995) · Nature Structural & Molecular Biology · doi:10.1038/nsb0495-321 · Cited by 222 · see citing works
Ferrer‐Costa, C., Orozco, M., & de la Cruz, X. (2002) · Journal of Molecular Biology · doi:10.1006/jmbi.2001.5255 · Cited by 211 · see citing works
iRefWeb: interactive analysis of consolidated protein interaction data and their supporting evidence
Turner, B., Razick, S., Turinsky, A. L., Vlasblom, J., Crowdy, E., Cho, E., Morrison, K., Donaldson, I. M., & Wodak, S. J. (2010) · Database · doi:10.1093/database/baq023 · Cited by 207 · see citing works
VisANT 3.5: multi-scale network visualization, analysis and inference based on the gene ontology
Hu, Z., Hung, J., Wang, Y., Chang, Y.-C., Huang, C. L., Huyck, M., & DeLisi, C. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp406 · Cited by 185 · see citing works
Chi, S.-W., Ayed, A., & Arrowsmith, C. H. (1999) · The EMBO Journal · doi:10.1093/emboj/18.16.4438 · Cited by 169 · see citing works
Bar‐Joseph, Z., Siegfried, Z., Brandeis, M., Brors, B., Lu, Y. C., Eils, R., Dynlacht, B. D., & Simon, I. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0704723105 · Cited by 162 · see citing works
MOULDING, D. A., Blundell, M. P., Spiller, D. G., White, M., Cory, G. O. C., Calle, Y., Kempski, H. M., Sinclair, J., Ancliff, P. J., Kinnon, C., et al. (2007) · The Journal of Experimental Medicine · doi:10.1084/jem.20062324 · Cited by 159 · see citing works
Protein interactions in human genetic diseases
Schuster‐Böckler, B., & Bateman, A. G. (2008) · Genome biology · doi:10.1186/gb-2008-9-1-r9 · Cited by 125 · see citing works
3did Update: domain-domain and peptide-mediated interactions of known 3D structure
Stein, A., Panjkovich, A., & Aloy, P. (2008) · Nucleic Acids Research · doi:10.1093/nar/gkn690 · Cited by 69 · see citing works
Literature curation of protein interactions: measuring agreement across major public databases
Turinsky, A. L., Razick, S., Turner, B., Donaldson, I. M., & Wodak, S. J. (2010) · Database · doi:10.1093/database/baq026 · Cited by 64 · see citing works
The Rapp–Hodgkin syndrome results from mutations of the TP63 gene
Bougeard, G., Hadj-Rabia, S., Faivre, L. O., Sarafan‐Vasseur, N., & Frébourg, T. (2003) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201004 · Cited by 63 · see citing works
Harada, B. T., Knight, M. J., Imai, S.-I., Qiao, F., Ramachander, R., Sawaya, M. R., Gingery, M., Sakane, F., & Bowie, J. U. (2008) · Structure · doi:10.1016/j.str.2007.12.017 · Cited by 59 · see citing works
Yu, H., Jansen, R., Stolovitzky, G. A., & Gerstein, M. (2007) · Bioinformatics · doi:10.1093/bioinformatics/btm291 · Cited by 48 · see citing works
Self-citationSuzuki, Y. (2005) · Nucleic Acids Research · doi:10.1093/nar/gni103 · Cited by 36 · see citing works
Dermitzakis, E. T., & Clark, A. G. (2009) · Science · doi:10.1126/science.1182009 · Cited by 35 · see citing works
An Introduction to Human Molecular Genetics
Pasternak, J. J. (2005) · Wiley eBooks · doi:10.1002/0471719188 · Cited by 27 · see citing works
Prieto, C. A. V., & Rivas, J. D. L. (2009) · Proteins Structure Function and Bioinformatics · doi:10.1002/prot.22569 · Cited by 22 · see citing works
Introduction to Molecular Genetics
Mannens, M. M. A. M., & Smeets, H. J. M. (2010) · Springer eBooks · doi:10.1007/978-1-84996-471-5_1 · Cited by 14 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
MDM2, MDMX and p53 in oncogenesis and cancer therapy
Wade, M., Li, Y.-C., & Wahl, G. M. (2013) · Nature Reviews Cancer · doi:10.1038/nrc3430 · Cited by 1,279 · see citing works
Interactome3D: adding structural details to protein networks
Mosca, R., Céol, A., & Aloy, P. (2013) · Nature Methods · doi:10.1038/nmeth.2289 · Cited by 479 · see citing works
Pathological Unfoldomics of Uncontrolled Chaos: Intrinsically Disordered Proteins and Human Diseases
Uversky, V. N., Davé, V., Iakoucheva, L. M., Malaney, P., Metallo, S. J., Pathak, R. R., & Joerger, A. C. (2014) · Chemical Reviews · doi:10.1021/cr400713r · Cited by 288 · see citing works
Towards a structurally resolved human protein interaction network
Burke, D. F., Bryant, P., Barrio-Hernandez, I., Memon, D., Pozzati, G., Shenoy, A., Zhu, W., Dunham, A. S., Albanese, P., Keller, A., et al. (2023) · Nature Structural & Molecular Biology · doi:10.1038/s41594-022-00910-8 · Cited by 269 · see citing works
Thermal proximity coaggregation for system-wide profiling of protein complex dynamics in cells
Tan, C. S. H., Go, K. D., Bisteau, X., Dai, L., Yong, C. H., Prabhu, N., Ozturk, M. B., Lim, Y. T., Sreekumar, L., Lengqvist, J., et al. (2018) · Science · doi:10.1126/science.aan0346 · Cited by 224 · see citing works
MutaBind2: predicting the impacts of single and multiple mutations on protein-protein interactions
Zhang, N., Chen, Y., Lu, H., Zhao, F., Alvarez, R. V., Goncearenco, A., Panchenko, A. R., & Li, M. (2020) · iScience · doi:10.1016/j.isci.2020.100939 · Cited by 199 · see citing works
The Role of Conformational Dynamics and Allostery in Modulating Protein Evolution
Campitelli, P., Modi, T., Kumar, S., & Ozkan, S. B. (2020) · Annual Review of Biophysics · doi:10.1146/annurev-biophys-052118-115517 · Cited by 190 · see citing works
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders
Li, J., Shi, M., Ma, Z., Zhao, S., Euskirchen, G., Ziskin, J., Urban, A., Hallmayer, J., & Snyder, M. (2014) · Molecular Systems Biology · doi:10.15252/msb.20145487 · Cited by 132 · see citing works
Genotype to phenotype via network analysis
Carter, H., Hofree, M., & Ideker, T. (2013) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2013.10.003 · Cited by 132 · see citing works
The structural coverage of the human proteome before and after AlphaFold
Porta-Pardo, E., Ruiz-Serra, V., Valentini, S., & Valencia, A. (2022) · PLOS Computational Biology · doi:10.1371/journal.pcbi.1009818 · Cited by 131 · see citing works
Hot-spot analysis for drug discovery targeting protein-protein interactions
Rosell, M., & Fernández-Recio, J. (2018) · Expert Opinion on Drug Discovery · doi:10.1080/17460441.2018.1430763 · Cited by 105 · see citing works
Geng, C., Vangone, A., Folkers, G. E., Xue, L. C., & Bonvin, A. M. J. J. (2019) · Proteins: Structure, Function, and Bioinformatics · doi:10.1002/prot.25630 · Cited by 82 · see citing works
Ghadie, M. A., Lambourne, L., Vidal, M., & Xia, Y. (2017) · PLOS Computational Biology · doi:10.1371/journal.pcbi.1005717 · Cited by 39 · see citing works
Challenges in bridging the gap between protein structure prediction and functional interpretation
Varadi, M., Tsenkov, M., & Velankar, S. (2025) · Proteins: Structure, Function, and Bioinformatics · doi:10.1002/prot.26614 · Cited by 36 · see citing works
Screening-based approaches to identify small molecules that inhibit protein–protein interactions
Choi, S., & Choi, K.-Y. (2017) · Expert Opinion on Drug Discovery · doi:10.1080/17460441.2017.1280456 · Cited by 29 · see citing works
- Authors
- Wang, X., Wei, X., Thijssen, B., Das, J., Lipkin, S. M., & Yu, H.
- Affiliations
- Cornell University (US)
- Maastricht University (NL)
- Weill Cornell Medicine (US)
- Corresponding author
- Yu, Haiyuan
- Venue
- Nature Biotechnology
- Published
- 2012-01-15
- Volume
- 30
- Issue
- 2
- Pages
- 159-164
- ISSN
- 0733-222X (ISSN-L)
- 1087-0156
- 1546-1696
- PMC
- PMC3708476
- OpenAlex
- W2162128823
- Cited by
- 385
- References
- 66
- Citations by year
- 2026: 9 · 2025: 13 · 2024: 10 · 2023: 10 · 2022: 15 · 2021: 26 · 2020: 18 · 2019: 22 · 2018: 34 · 2017: 42 · 2016: 34 · 2015: 35 · 2014: 41 · 2013: 54 · 2012: 22
- FWCI
- 19.53
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Biotechnology (publishedVersion)
- PubMed (publishedVersion)
- Research Publications (Maastricht University) (publishedVersion, other-oa)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Research Publications (Maastricht University) (submittedVersion, other-oa)
- Funders
- National Cancer Institute (R01CA167824, R01CA098626, R21 CA122937)
- National Institute of General Medical Sciences (R01GM097358, R01GM104424)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Protein Structure and Dynamics
- Keywords
- protein-protein interaction network, human interactome, in-frame mutations, missense mutations, structural genomics, genome-wide association study, pathogenesis, candidate genes
- MeSH terms
- Humans, Image Processing, Computer-Assisted, Mutation, Computational Biology, Genetic Diseases, Inborn, Metabolic Networks and Pathways, Protein Interaction Maps
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
