Probing genetic overlap among complex human phenotypes
Open accessAbstract
Geneticists and epidemiologists often observe that certain hereditary disorders cooccur in individual patients significantly more (or significantly less) frequently than expected, suggesting there is a genetic variation that predisposes its bearer to multiple disorders, or that protects against some disorders while predisposing to others. We suggest that, by using a large number of phenotypic observations about multiple disorders and an appropriate statistical model, we can infer genetic overlaps between phenotypes. Our proof-of-concept analysis of 1.5 million patient records and 161 disorders indicates that disease phenotypes form a highly connected network of strong pairwise correlations. Our modeling approach, under appropriate assumptions, allows us to estimate from these correlations the size of putative genetic overlaps. For example, we suggest that autism, bipolar disorder, and schizophrenia share significant genetic overlaps. Our disease network hypothesis can be immediately exploited in the design of genetic mapping approaches that involve joint linkage or association analyses of multiple seemingly disparate phenotypes.
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Risk for one disease is conditioned on another disease in the same person.
“(iii) conditioning of the risk for one disease on another disease in the same individual106,107.”
From Rare and common variants: twenty arguments (2012) · cites this paper as [106]
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The Statistical Analysis of Failure Time Data
Kalbfleisch, J. D., & Prentice, R. L. (2002) · Wiley Series in Probability and Statistics · doi:10.1002/9781118032985 · Cited by 3,219 · see citing works
The Statistical Analysis of Failure Time Data
Klein, J. P., Kalbfleisch, J. D., & Prentice, R. L. (1982) · Technometrics · doi:10.1080/00401706.1982.10487769 · Cited by 2,248 · see citing works
Linkage strategies for genetically complex traits. I. Multilocus models.
RISCH, N. J. (1990) · PubMed · Cited by 1,315 · see citing works
Population genetics of polymorphism and divergence.
Sawyer, S. A., & Hartl, D. L. (1992) · Genetics · doi:10.1093/genetics/132.4.1161 · Cited by 592 · see citing works
Smalley, S. L., Tanguay, P. E., Smith, M., & Gutierrez, G. (1992) · Journal of Autism and Developmental Disorders · doi:10.1007/bf01048239 · Cited by 518 · see citing works
Comprehensive Handbook of Psychopathology
Sutker, P. B., & Adams, H. E. (1993) · Springer eBooks · doi:10.1007/978-1-4615-3008-4 · Cited by 405 · see citing works
O’Brien, S. J., & Nelson, G. W. (2004) · Nature Genetics · doi:10.1038/ng1369 · Cited by 317 · see citing works
Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification
Cohen, D., Pichard, N., Tordjman, S., Baumann, C., Burglen, L., Excoffier, E., Lazar, G., Mazet, P., Pinquier, C., Verloes, A., et al. (2005) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-004-1038-2 · Cited by 316 · see citing works
Stahlberg, O., Soderstrom, H., Rastam, M., & Gillberg, C. (2004) · Journal of Neural Transmission · doi:10.1007/s00702-004-0115-1 · Cited by 273 · see citing works
Medical Risk in Patients With Bipolar Disorder and Schizophrenia
Newcomer, J. W. (2006) · The Journal of Clinical Psychiatry · doi:10.4088/jcp.1106e16 · Cited by 264 · see citing works
Wiznitzer, M. (2004) · Journal of Child Neurology · doi:10.1177/08830738040190090701 · Cited by 214 · see citing works
Richardson, A. J., & Ross, M. A. (2000) · Prostaglandins Leukotrienes and Essential Fatty Acids · doi:10.1054/plef.2000.0184 · Cited by 196 · see citing works
Comprehensive Handbook of Psychopathology
Sutker, P. B., & Adams, H. E. (2001) · Springer eBooks · doi:10.1007/b107807 · Cited by 157 · see citing works
Kulkarni, J., Garland, K. A., Scaffidi, A., Headey, B., Anderson, R., de Castella, A. R., Fitzgerald, P. B., & Davis, S. R. (2005) · Psychoneuroendocrinology · doi:10.1016/j.psyneuen.2005.11.001 · Cited by 113 · see citing works
Comprehensive Handbook of Psychopathology, 3rd ed.
Klein, D. F. (2002) · American Journal of Psychiatry · doi:10.1176/appi.ajp.159.9.1613-a · Cited by 47 · see citing works
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Research works printed but not linked: 3
- [2]Risch N. Am J Hum Genet. 1990;46:222–228. 229–241. [PMC free article] [PubMed] [Google Scholar]
- [8]Newcomer JW. J Clin Psychiatry. 2006;67(Suppl 9):25–30. discussion 36–42. [PubMed] [Google Scholar]
- [12]Neyman J, Pearson ES. Biometrika 20-A, 175–. 1928;240:263–294. [Google Scholar]
Cited by
Sorted by citations
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 · 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
Mining electronic health records: towards better research applications and clinical care
Jensen, P. B., Jensen, L. J., & Brunak, S. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3208 · Cited by 1,680 · see citing works
Uncovering disease-disease relationships through the incomplete interactome
Menche, J., Sharma, A., Kitsak, M., Ghiassian, S. D., Vidal, M., Loscalzo, J., & Barabási, A.-L. (2015) · Science · doi:10.1126/science.1257601 · Cited by 1,546 · see citing works
Rare and common variants: twenty arguments
Gibson, G. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3118 · Cited by 1,278 · see citing works
Houle, D., Govindaraju, D. R., & Omholt, S. W. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2897 · Cited by 1,276 · see citing works
PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations
Denny, J. C., Ritchie, M. D., Basford, M. A., Pulley, J. M., Bastarache, L., Brown-Gentry, K., Wang, D., Masys, D. R., Roden, D. M., & Crawford, D. C. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq126 · Cited by 1,219 · see citing works
Denny, J. C., Bastarache, L. A., Ritchie, M. D., Carroll, R. J., Zink, R., Mosley, J. D., Field, J. R., Pulley, J. M., Ramirez, A. H., Bowton, E., et al. (2013) · Nature Biotechnology · doi:10.1038/nbt.2749 · Cited by 978 · see citing works
Structure and dynamics of molecular networks: A novel paradigm of drug discovery
Csermely, P., Korcsmáros, T., Kiss, H., London, G., & Nussinov, R. (2013) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2013.01.016 · Cited by 889 · see citing works
Identification of Distinct Psychosis Biotypes Using Brain-Based Biomarkers
Clementz, B. A., Sweeney, J. A., Hamm, J. P., Ivleva, E. I., Ethridge, L. E., Pearlson, G. D., Keshavan, M. S., & Tamminga, C. A. (2016) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2015.14091200 · Cited by 768 · see citing works
A Dynamic Network Approach for the Study of Human Phenotypes
Hidalgo, C. A., Blumm, N., Barabási, A.-Ĺ., & Christakis, N. A. (2009) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1000353 · Cited by 670 · see citing works
Network‐based global inference of human disease genes
Wu, X., Jiang, R., Zhang, M. Q., & Li, S. (2008) · Molecular Systems Biology · doi:10.1038/msb.2008.27 · Cited by 654 · see citing works
Human symptoms–disease network
Zhou, X., Menche, J., Barabási, A.-Ĺ., & Sharma, A. (2014) · Nature Communications · doi:10.1038/ncomms5212 · Cited by 649 · see citing works
Psychosis and autism as diametrical disorders of the social brain
Crespi, B. J., & Badcock, C. R. (2008) · Behavioral and Brain Sciences · doi:10.1017/s0140525x08004214 · Cited by 618 · see citing works
Deficits in behavioural inhibition in substance abuse and addiction: a meta-analysis.
Smith, J. L., Mattick, R. P., Jamadar, S. D., & Iredale, J. M. (2014) · Drug and Alcohol Dependence · doi:10.1016/j.drugalcdep.2014.08.009 · Cited by 546 · see citing works
The implications of human metabolic network topology for disease comorbidity
Lee, D., Park, J., Kay, K. A., Christakis, N. A., Oltvai, Z. N., & Barabási, A.-Ĺ. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0802208105 · Cited by 489 · see citing works
Disruption of the neurexin 1 gene is associated with schizophrenia
Rujescu, D., Ingason, A., Cichon, S., Pietiläinen, O. P. H., Barnes, M. R., Toulopoulou, T., Picchioni, M., Vassos, E., Ettinger, U., Bramon, E., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddn351 · Cited by 471 · see citing works
Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders
Parikshak, N. N., Gandal, M. J., & Geschwind, D. H. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3934 · Cited by 430 · see citing works
Bucan, M., Abrahams, B. S., Wang, K., Glessner, J. T., Herman, E. I., Sonnenblick, L. I., Alvarez Retuerto, A. I., Imielinski, M., Hadley, D., Bradfield, J. P., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000536 · Cited by 424 · see citing works
Genome-wide inferring gene–phenotype relationship by walking on the heterogeneous network
Li, Y., & Patra, J. C. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq108 · Cited by 411 · see citing works
Genetic correlations of polygenic disease traits: from theory to practice
van Rheenen, W., Peyrot, W. J., Schork, A. J., Lee, S., & Wray, N. R. (2019) · Nature Reviews Genetics · doi:10.1038/s41576-019-0137-z · Cited by 385 · see citing works
Genetic and Epigenetic Networks in Intellectual Disabilities
van Bokhoven, H. (2011) · Annual Review of Genetics · doi:10.1146/annurev-genet-110410-132512 · Cited by 382 · see citing works
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
Kirov, G., Gumus, D., Chen, W., Norton, N., Georgieva, L., Sari, M., O'Donovan, M. C., Erdogan, F., Owen, M. J., Ropers, H.-H., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm323 · Cited by 377 · see citing works
Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD
Lionel, A. C., Crosbie, J., Barbosa, N., Goodale, T., Thiruvahindrapuram, B., Rickaby, J., Gazzellone, M. J., Carson, A. R., Howe, J., Wang, Z., et al. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3002464 · Cited by 366 · see citing works
Response inhibition and psychopathology: A meta-analysis of go/no-go task performance
Wright, L., Lipszyc, J., Dupuis, A., Thayapararajah, S. W., & Schachar, R. (2014) · Journal of Abnormal Psychology · doi:10.1037/a0036295 · Cited by 360 · see citing works
Network biology concepts in complex disease comorbidities
Hu, J. X., Thomas, C. E., & Brunak, S. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.87 · Cited by 328 · see citing works
Genetic overlap between autism, schizophrenia and bipolar disorder
Carroll, L. S., & Owen, M. J. (2009) · Genome Medicine · doi:10.1186/gm102 · Cited by 326 · see citing works
Human Disease-Drug Network Based on Genomic Expression Profiles
Hu, G., & Agarwal, P. (2009) · PLoS ONE · doi:10.1371/journal.pone.0006536 · Cited by 304 · see citing works
Systems biology and the future of medicine
Loscalzo, J., & Barabási, A.-Ĺ. (2011) · WIREs Systems Biology and Medicine · doi:10.1002/wsbm.144 · Cited by 293 · see citing works
MalaCards: an integrated compendium for diseases and their annotation
Rappaport, N., Nativ, N., Stelzer, G., Twik, M., Guan‐Golan, Y., Stein, T. I., Bahir, I., Belinky, F., Morrey, C. P., Safran, M., et al. (2013) · Database · doi:10.1093/database/bat018 · Cited by 280 · see citing works
Comparative genomics of autism and schizophrenia
Crespi, B., Stead, P., & Elliot, M. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0906080106 · Cited by 262 · see citing works
Choosing experiments to accelerate collective discovery
Rzhetsky, A., Foster, J. G., Foster, I. T., & Evans, J. A. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1509757112 · Cited by 247 · see citing works
Self-citationThe impact of cellular networks on disease comorbidity
Park, J. M., Lee, D., Christakis, N. A., & Barabási, A.-Ĺ. (2009) · Molecular Systems Biology · doi:10.1038/msb.2009.16 · Cited by 245 · see citing works
Diagnosis code assignment: models and evaluation metrics
Perotte, A., Pivovarov, R., Natarajan, K., Weiskopf, N., Wood, F., & Elhadad, N. (2014) · Journal of the American Medical Informatics Association · doi:10.1136/amiajnl-2013-002159 · Cited by 244 · see citing works
Extracting research-quality phenotypes from electronic health records to support precision medicine
Wei, W., & Denny, J. C. (2015) · Genome Medicine · doi:10.1186/s13073-015-0166-y · Cited by 243 · see citing works
Genome-wide association study of medication-use and associated disease in the UK Biobank
Wu, Y., Byrne, E. M., Zheng, Z., Kemper, K. E., Yengo, L., Mallett, A. J., Yang, J., Visscher, P. M., & Wray, N. R. (2019) · Nature Communications · doi:10.1038/s41467-019-09572-5 · Cited by 243 · see citing works
Network-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
Linghu, B., Snitkin, E. S., Hu, Z., Xia, Y., & DeLisi, C. (2009) · Genome biology · doi:10.1186/gb-2009-10-9-r91 · Cited by 232 · see citing works
Keshavan, M. S., Nasrallah, H. A., & Tandon, R. (2011) · Schizophrenia Research · doi:10.1016/j.schres.2011.01.011 · Cited by 227 · see citing works
Focus on the emerging new fields of network physiology and network medicine
Ivanov, P. C., Liu, K. K. L., & Bartsch, R. P. (2016) · New Journal of Physics · doi:10.1088/1367-2630/18/10/100201 · Cited by 223 · see citing works
Craddock, N., O'Donovan, M. C., & Owen, M. J. (2009) · Schizophrenia Bulletin · doi:10.1093/schbul/sbp020 · Cited by 216 · see citing works
A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk
Blair, D. R., Lyttle, C. S., Mortensen, J. M., Bearden, C. F., Jensen, A. B., Khiabanian, H., Melamed, R., Rabadan, R., Bernstam, E. V., Brunak, S., et al. (2013) · Cell · doi:10.1016/j.cell.2013.08.030 · Cited by 215 · see citing works
Self-citationNeuroscience in the era of functional genomics and systems biology
Geschwind, D. H., & Konopka, G. (2009) · Nature · doi:10.1038/nature08537 · Cited by 213 · see citing works
Modules, networks and systems medicine for understanding disease and aiding diagnosis
Gustafsson, M., Nestor, C. E., Zhang, H., Barabási, A.-L., Baranzini, S., Brunak, S., Chung, K. F., Federoff, H. J., Gavin, A.-C., Meehan, R. R., et al. (2014) · Genome Medicine · doi:10.1186/s13073-014-0082-6 · Cited by 194 · see citing works
Informatics and Computational Methods in Natural Product Drug Discovery: A Review and Perspectives
Romano, J. D., & Tatonetti, N. P. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00368 · Cited by 179 · see citing works
Genome-Wide Association Studies and Beyond
Witte, J. S. (2010) · Annual Review of Public Health · doi:10.1146/annurev.publhealth.012809.103723 · Cited by 175 · see citing works
Pendergrass, S. A., Brown-Gentry, K. D., DUDEK, S. M., Torstenson, E. S., Ambite, J. L., Avery, C. L., Buyske, S. G., Cai, C., Fesinmeyer, M. D., Haiman, C. A., et al. (2011) · Genetic Epidemiology · doi:10.1002/gepi.20589 · Cited by 172 · see citing works
Contact in the genetics of autism and schizophrenia
Burbach, J. P. H., & van der Zwaag, B. (2009) · Trends in Neurosciences · doi:10.1016/j.tins.2008.11.002 · Cited by 168 · see citing works
Comorbid medical illness in bipolar disorder
Forty, L., Ulanova, A., Jones, L., Jones, I., Gordon-Smith, K., Fraser, C., Farmer, A., McGuffin, P., Lewis, C. M., Hosang, G. M., et al. (2014) · British Journal of Psychiatry · doi:10.1192/bjp.bp.114.152249 · Cited by 166 · see citing works
Chapter 13: Mining Electronic Health Records in the Genomics Era
Denny, J. C. (2012) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1002823 · Cited by 165 · see citing works
The genetics of autoimmune diseases: a networked perspective
Baranzini, S. E. (2009) · Current Opinion in Immunology · doi:10.1016/j.coi.2009.09.014 · Cited by 161 · see citing works
Finding disease similarity based on implicit semantic similarity
Mathur, S., & Dinakarpandian, D. (2011) · Journal of Biomedical Informatics · doi:10.1016/j.jbi.2011.11.017 · Cited by 150 · see citing works
Exploring the human diseasome: the human disease network
Goh, K.-I., & Choi, I. (2012) · Briefings in Functional Genomics · doi:10.1093/bfgp/els032 · Cited by 139 · see citing works
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders
Schaefer, G. B., & Mendelsohn, N. J. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e31816b5cc9 · Cited by 135 · see citing works
The multiplex network of human diseases
Halu, A., Domenico, M. D., Arenas, À., & Sharma, A. (2019) · npj Systems Biology and Applications · doi:10.1038/s41540-019-0092-5 · Cited by 133 · see citing works
Phenotypic connections in surprising places
Linghu, B., & DeLisi, C. (2010) · Genome biology · doi:10.1186/gb-2010-11-4-116 · Cited by 128 · see citing works
The use of electronic health records for psychiatric phenotyping and genomics
Smoller, J. W. (2017) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32548 · Cited by 125 · see citing works
Predictors of Psychiatric Symptoms in Children with an Autism Spectrum Disorder
Gadow, K. D., DeVincent, C. J., & Schneider, J. (2008) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-008-0556-8 · Cited by 115 · see citing works
Viral Perturbations of Host Networks Reflect Disease Etiology
Gulbahce, N., Yan, H., Dricot, A., Padi, M., Byrdsong, D., Franchi, R., Lee, D., Rozenblatt–Rosen, O., Mar, J. C., Calderwood, M. A., et al. (2012) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1002531 · Cited by 109 · see citing works
Network-based analysis of comorbidities risk during an infection: SARS and HIV case studies
Moni, M. A., & Lió, P. (2014) · BMC Bioinformatics · doi:10.1186/1471-2105-15-333 · Cited by 106 · see citing works
DiseaseConnect: a comprehensive web server for mechanism-based disease–disease connections
Liu, C.-C., Tseng, Y., Li, W., Wu, C.-Y., Mayzus, I., Rzhetsky, A., Sun, F., Waterman, M. S., Chen, J. J. W., Chaudhary, P. M., et al. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku412 · Cited by 106 · see citing works
Self-citationThe ubiquity of pleiotropy in human disease
Chesmore, K. N., Bartlett, J., & Williams, S. M. (2017) · Human Genetics · doi:10.1007/s00439-017-1854-z · Cited by 103 · see citing works
Oti, M., Huynen, M. A., & Brunner, H. G. (2008) · Trends in Genetics · doi:10.1016/j.tig.2007.12.005 · Cited by 101 · see citing works
The Role of DNA Copy Number Variation in Schizophrenia
Tam, G. W. C., Redon, R., Carter, N. P., & Grant, S. G. N. (2009) · Biological Psychiatry · doi:10.1016/j.biopsych.2009.07.027 · Cited by 98 · see citing works
Wu, X., Liu, Q., & Jiang, R. (2008) · Bioinformatics · doi:10.1093/bioinformatics/btn593 · Cited by 98 · see citing works
Researching Genetic Versus Nongenetic Determinants of Disease: A Comparison and Proposed Unification
Ioannidis, J. P. A., Loy, E. Y., Poulton, R., & Chia, K. S. (2009) · Science Translational Medicine · doi:10.1126/scitranslmed.3000247 · Cited by 95 · see citing works
Winham, S. J., Barboza, A. B. C., Oliveros, A., McElroy, S. L., Crow, S. J., Colby, C. L., Choi, D.-S., Chauhan, M., Frye, M. A., & Biernacka, J. M. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.159 · Cited by 93 · see citing works
Building the graph of medicine from millions of clinical narratives
Finlayson, S. G., LePendu, P., & Shah, N. H. (2014) · Scientific Data · doi:10.1038/sdata.2014.32 · Cited by 91 · see citing works
Protein localization as a principal feature of the etiology and comorbidity of genetic diseases
Park, S., Yang, J., Shin, Y., Park, J. M., Jang, S. K., & Kim, S. (2011) · Molecular Systems Biology · doi:10.1038/msb.2011.29 · Cited by 89 · see citing works
Detection and Characterization of Copy Number Variation in Autism Spectrum Disorder
Marshall, C. R., & Scherer, S. W. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-507-7_5 · Cited by 87 · see citing works
Reimagining psychoses: An agnostic approach to diagnosis
Keshavan, M. S., Clementz, B. A., Pearlson, G. D., Sweeney, J. A., & Tamminga, C. A. (2013) · Schizophrenia Research · doi:10.1016/j.schres.2013.02.022 · Cited by 84 · see citing works
Systems medicine: evolution of systems biology from bench to bedside
Wang, R., Maron, B. A., & Loscalzo, J. (2015) · WIREs Systems Biology and Medicine · doi:10.1002/wsbm.1297 · Cited by 80 · see citing works
Survival of the Currently Fittest: Genetics of Rainbow Trout Survival Across Time and Space
Vehviläinen, H., Kause, A., Quinton, C. D., Koskinen, H., & Paananen, T. (2008) · Genetics · doi:10.1534/genetics.108.089896 · Cited by 80 · see citing works
Morgan, V. A., Croft, M. L., Valuri, G. M., Zubrick, S. R., Bower, C. I., McNeil, T. F., & Jablensky, A. V. (2012) · The British Journal of Psychiatry · doi:10.1192/bjp.bp.111.093070 · Cited by 79 · see citing works
Marx, P., Antal, P., Bolgár, B., Bagdy, G., Deakin, J. F. W., & Juhász, G. (2017) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1005487 · Cited by 77 · see citing works
Quantification of Diabetes Comorbidity Risks across Life Using Nation-Wide Big Claims Data
Klimek, P., Kautzky‐Willer, A., Chmiel, A., Schiller-Frühwirth, I., & Stefan Thurner, A. (2015) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1004125 · Cited by 76 · see citing works
Minor physical anomalies in autism: a meta-analysis
Özgen, M. H., Hop, J., Hox, J. J., Beemer, F. A., & van Engeland, H. (2008) · Molecular Psychiatry · doi:10.1038/mp.2008.75 · Cited by 75 · see citing works
Literature‐based discovery: Beyond the ABCs
Smalheiser, N. R. (2011) · Journal of the American Society for Information Science and Technology · doi:10.1002/asi.21599 · Cited by 74 · see citing works
Network medicine, multimorbidity and the lung in the elderly
Faner, R., Cruz, T., López-Giraldo, A., & Agustí, A. G. N. (2014) · European Respiratory Journal · doi:10.1183/09031936.00078714 · Cited by 73 · see citing works
Genetic sharing and heritability of paediatric age of onset autoimmune diseases
Li, Y. R., Zhao, S. D., Li, J., Bradfield, J. P., Mohebnasab, M., Steel, L., Kobie, J., Abrams, D. J., Mentch, F. D., Glessner, J., et al. (2015) · Nature Communications · doi:10.1038/ncomms9442 · Cited by 73 · see citing works
Applications of network analysis to routinely collected health care data: a systematic review
Brunson, J. C., & Laubenbacher, R. (2017) · Journal of the American Medical Informatics Association · doi:10.1093/jamia/ocx052 · Cited by 72 · see citing works
Dissecting the phenotype in genome-wide association studies of psychiatric illness
Craddock, N. J., Kendler, K. S., Neale, M. C., Nürnberger, J. I., Purcell, S., Rietschel, M., Perlis, R. H., Santangelo, S. L., Schulze, T. G., Schulze, T. G., et al. (2009) · The British Journal of Psychiatry · doi:10.1192/bjp.bp.108.063156 · Cited by 72 · see citing works
Gadow, K. D., Roohi, J., DeVincent, C. J., Kirsch, S. F., & Hatchwell, E. (2009) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-009-0794-4 · Cited by 70 · see citing works
Spreading of diseases through comorbidity networks across life and gender
Chmiel, A., Klimek, P., & Stefan Thurner, A. (2014) · New Journal of Physics · doi:10.1088/1367-2630/16/11/115013 · Cited by 67 · see citing works
Yadav, R., Hillman, B. G., Gupta, S. C., Suryavanshi, P. S., Bhatt, J. M., Pavuluri, R., Stairs, D. J., & Dravid, S. M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0060785 · Cited by 62 · see citing works
Xu, R., Li, L., & Wang, Q. (2013) · Bioinformatics · doi:10.1093/bioinformatics/btt359 · Cited by 60 · see citing works
Human metabolic network reconstruction and its impact on drug discovery and development
Ma, H., & Goryanin, I. (2008) · Drug Discovery Today · doi:10.1016/j.drudis.2008.02.002 · Cited by 59 · see citing works
Kumar, R. A., Sudi, J., Babatz, T. D., Brune, C. W., Oswald, D. P., Yen, M., Nowak, N. J., Cook, E. H., Christian, S. L., & Dobyns, W. B. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.065821 · Cited by 59 · see citing works
Simmons, M., Singhal, A., & Lu, Z. (2016) · Advances in experimental medicine and biology · doi:10.1007/978-981-10-1503-8_7 · Cited by 59 · see citing works
High-risk multimorbidity patterns on the road to cardiovascular mortality
Haug, N., Deischinger, C., Gyimesi, M., Kautzky‐Willer, A., Stefan Thurner, A., & Klimek, P. (2020) · BMC Medicine · doi:10.1186/s12916-020-1508-1 · Cited by 59 · see citing works
Pendergrass, S. A., & Ritchie, M. D. (2015) · Current Genetic Medicine Reports · doi:10.1007/s40142-015-0067-9 · Cited by 56 · see citing works
The origins and evolution of genetic disease risk in modern humans
Crespi, B. J. (2010) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2010.05707.x · Cited by 55 · see citing works
Rapin, I., & Tuchman, R. F. (2008) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3282f49579 · Cited by 55 · see citing works
A Systems Approach to Refine Disease Taxonomy by Integrating Phenotypic and Molecular Networks
Zhou, X., Lei, L., Liu, J. H., Halu, A., Zhang, Y., Li, B., Guo, Z., Liu, G., Sun, C., Loscalzo, J., et al. (2018) · EBioMedicine · doi:10.1016/j.ebiom.2018.04.002 · Cited by 55 · see citing works
del Valle, E. P. G., García, G. L., Santamaría, L. P., Zanin, M., Menasalvas, E., & Rodríguez‐González, A. (2019) · Journal of Biomedical Informatics · doi:10.1016/j.jbi.2019.103206 · Cited by 54 · see citing works
Genetic Basis of Alopecia Areata
Jabbari, A., Petukhova, L., Cabral, R. M., Clynes, R., & Christiano, A. M. (2012) · Dermatologic Clinics · doi:10.1016/j.det.2012.08.014 · Cited by 53 · see citing works
Xu, R., Li, L., & Wang, Q. (2014) · BMC Bioinformatics · doi:10.1186/1471-2105-15-105 · Cited by 53 · see citing works
Kahle, J. J., Gulbahce, N., Shaw, C. A., Lim, J., HILL, D. E., Barabási, A.-Ĺ., & Zoghbi, H. Y. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq496 · Cited by 51 · see citing works
Zolotareva, O. I., Saik, O. V., Königs, C., Bragina, E. Y., Goncharova, I. A., Freidin, M. B., Dosenko, V., Иванисенко, В. А., & Hofestädt, R. (2019) · Scientific Reports · doi:10.1038/s41598-019-52762-w · Cited by 50 · see citing works
Electronic health records: Implications for drug discovery
Yao, L., Zhang, Y., Li, Y., Sanséau, P., & Agarwal, P. (2011) · Drug Discovery Today · doi:10.1016/j.drudis.2011.05.009 · Cited by 50 · see citing works
- Authors
- Rzhetsky, A., Wajngurt, D., Park, N., & Zheng, T.
- Affiliations
- Columbia University (US)
- *Department of Biomedical Informatics, Center for Computational Biology and Bioinformatics and Joint Centers for Systems Biology, and
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2007-07-10
- Volume
- 104
- Issue
- 28
- Pages
- 11694-11699
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC1906727
- OpenAlex
- W2121926780
- Cited by
- 298
- References
- 15
- Citations by year
- 2026: 4 · 2025: 2 · 2024: 9 · 2023: 4 · 2022: 10 · 2021: 8 · 2020: 9 · 2019: 20 · 2018: 16 · 2017: 15 · 2016: 12 · 2015: 28 · 2014: 24 · 2013: 22 · 2012: 17
- FWCI
- 12.55
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Columbia Academic Commons (Columbia University)
- Funders
- National Science Foundation (0121687, 0438291, 0532231)
- National Institutes of Health (CA121852, U54-CA121852)
- Advanced Research Projects Agency
- National Cancer Institute (U54CA121852)
- National Institute of General Medical Sciences (GM61372, R01GM061372, GM070789, R01GM070789)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- genetic overlap, disease networks, genetic correlation, comorbidities, autism spectrum disorder, bipolar disorder, schizophrenia, gene mapping
- MeSH terms
- Autistic Disorder, Bipolar Disorder, Humans, Models, Genetic, Phenotype, Schizophrenia, Genetic Variation, Genome, Human, Likelihood Functions
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.
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