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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
Open accessAbstract
Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed approximately 19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated approximately 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
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“SVs have already been associated with diverse diseases, including autism2,3, schizophrenia4,5 and Crohn’s disease6,7.”
From Mapping copy number variation by population-scale genome sequencing (2011) · cites this paper as [6]
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“This analysis identified a single strong association (r2=.99), between rs10490924, a coding variant in the ARMS2 gene which is the peak of association in 10q26, and a 3′ UTR indel polymorphism associated with ARMS2 mRNA instability40.”
From Seven new loci associated with age-related macular degeneration (2013) · cites this paper as [38]
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Individual Comparisons by Ranking Methods
Wilcoxon, F. (1945) · Biometrics Bulletin · doi:10.2307/3001968 · Cited by 15,354
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442
Self-citationFinding the missing heritability of complex diseases
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336
Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities
Faith, M. S., Carnell, S., & Kral, T. V. E. (2013) · Human Heredity · doi:10.1159/000353879 · Cited by 7,633
Global variation in copy number in the human genome
Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., et al. (2006) · Nature · doi:10.1038/nature05329 · Cited by 4,377
Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795
The Wellcome Trust Case Control Consortium, U.K.
Mossman, K. (2008) · Scientific American · doi:10.1038/scientificamerican0108-42a · Cited by 2,714
Evidence-based health policy—lessons from the Global Burden of Disease Study
Murray, C. J. L., & Lopez, A. D. (1996) · Science · doi:10.1126/science.274.5288.740 · Cited by 2,178
Origins and functional impact of copy number variation in the human genome
The Wellcome Trust Case Control Consortium, Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T. D., Barnes, C., et al. (2010) · Nature · doi:10.1038/nature08516 · Cited by 1,970
Self-citationPrescribing Personalized Nutrition for Cardiovascular Health: Are We Ready?
Juma, S., Imrhan, V., Vijayagopal, P., & Prasad, C. (2014) · Lifestyle Genomics · doi:10.1159/000370213 · Cited by 1,908
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Kallinikou, D., Soldatou, A., Tsentidis, C., Louraki, M., Kanaka‐Gantenbein, C., Kanavakis, E., & Karavanaki, K. (2019) · Diabetes/Metabolism Research and Reviews · doi:10.1002/dmrr.3178 · Cited by 58
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Irvin, M. R., Wineinger, N. E., Rice, T., Pajewski, N. M., Kabagambe, E. K., Gu, C. C., Pankow, J. S., North, K. E., Wilk, J. B., Freedman, B. I., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0024052 · Cited by 58
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Addis, L., Ahn, J. W., Dobson, R., Dixit, A., Ogilvie, C. M., Pinto, D., Vaags, A. K., Coon, H. H., Chaste, P., Wilson, S. G., et al. (2015) · Human Mutation · doi:10.1002/humu.22816 · Cited by 53
Letaïef, R., Rebours, E., Grohs, C., Meersseman, C., Fritz, S., Trouilh, L., Esquerré, D., Barbieri, J., Klopp, C., Philippe, R., et al. (2017) · Genetics Selection Evolution · doi:10.1186/s12711-017-0352-z · Cited by 52
Fernández–Rozadilla, C., Cazier, J., Moreno, V. R., Crous‐Bou, M., Guinó, E., Duran, G., Lamas, M. J., López, R., Candamio, S., Gallardo, E., et al. (2012) · The Pharmacogenomics Journal · doi:10.1038/tpj.2012.2 · Cited by 53
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Prager, M., Büttner, J., Haas, V. K., Baumgart, D. C., Sturm, A., Zeitz, M., & Büning, C. (2011) · International Journal of Colorectal Disease · doi:10.1007/s00384-011-1345-y · Cited by 52
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Munafo, M. R., Zammit, S., & Jonathan Flint, C. (2014) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12261 · Cited by 51
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Aharoni, E., & Rosset, S. (2013) · Journal of the Royal Statistical Society Series B (Statistical Methodology) · doi:10.1111/rssb.12048 · Cited by 49
Kumasaka, N., Aoki, M., Okada, Y., Takahashi, A., Ozaki, K., Mushiroda, T., Hirota, T., Tamari, M., Tanaka, T., Nakamura, Y., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0044507 · Cited by 51
McQuillin, A., Bass, N., Anjorin, A., Lawrence, J., Kandaswamy, R., Lydall, G., Moran, J., Sklar, P., Purcell, S., & Gurling, H. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.221 · Cited by 47
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Rare Copy Number Deletions Predict Individual Variation in Intelligence
Yeo, R. A., Gangestad, S. W., Liu, J., Calhoun, V. D., & Hutchison, K. E. (2011) · PLoS ONE · doi:10.1371/journal.pone.0016339 · Cited by 46
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Ræder, H., McAllister, F. E., Tjora, E., Bhatt, S., Haldorsen, I. S., Hu, J., Willems, S. M., Vesterhus, M. N., Ouaamari, A. E., Liu, M., et al. (2013) · Diabetes · doi:10.2337/db13-1012 · Cited by 46
Human copy number variants are enriched in regions of low mappability
Monlong, J., Cossette, P., Meloche, C., Rouleau, G. A., Girard, S., & Bourque, G. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky538 · Cited by 49
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Olsson, L. M., & Holmdahl, R. (2012) · European Journal of Immunology · doi:10.1002/eji.201242601 · Cited by 44
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Mitsunaga, S., Hosomichi, K., Okudaira, Y., Nakaoka, H., Kunii, N., Suzuki, Y., Kuwana, M., Sato, S., Kaneko, Y., Homma, Y., et al. (2013) · Journal of Human Genetics · doi:10.1038/jhg.2013.2 · Cited by 46
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Li, D., Zhao, H., Kranzler, H. R., Li, M. D., Jensen, K. P., Zayats, T., Farrer, L. A., & Gelernter, J. E. (2014) · Neuropsychopharmacology · doi:10.1038/npp.2014.290 · Cited by 46
Wang, X., Prins, B. P., Sõber, S., Laan, M., & Snieder, H. (2011) · Current Hypertension Reports · doi:10.1007/s11906-011-0230-y · Cited by 44
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Morahan, G., Mehta, M., JAMES, I. R., Chen, W., Akolkar, B., Erlich, H. A., Hilner, J. E., Julier, C., Nerup, J., Nierras, C. R., et al. (2011) · Diabetes · doi:10.2337/db10-1195 · Cited by 45
Moustafa, J. S. E.-S., Eleftherohorinou, H., de Smith, A. J., Andersson‐Assarsson, J. C., Alves, A. C., Hadjigeorgiou, E., Walters, R. G., Asher, J. E., Bottolo, L., Buxton, J. L., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds187 · Cited by 47
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Robinson, J. I., Carr, I., Cooper, D. L., Rashid, L. H., Martin, S. G., Emery, P., Isaacs, J. D., Barton, A. C., BRAGGSS, Wilson, A. G., et al. (2012) · Human Mutation · doi:10.1002/humu.22031 · Cited by 42
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D’Angelo, C. S., & Koiffmann, C. P. (2012) · Journal of Obesity · doi:10.1155/2012/845480 · Cited by 47
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Chen, J., Calhoun, V. D., Perrone‐Bizzozero, N. I., Pearlson, G. D., Jing Sui （Beijing Normal University）， my correct affiliation is beijing normal university, N. Q. U. O. S. A. T., Du, Y.-X., & Liu, J. (2016) · Translational Psychiatry · doi:10.1038/tp.2016.96 · Cited by 40
Deretic, V. P. (2016) · Journal of Leukocyte Biology · doi:10.1189/jlb.4mr0216-079r · Cited by 43
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Suzuki, A., & Yamamoto, K. (2015) · PubMed · Cited by 39
Han, X., Tan, Q., Yang, S., Li, J., Xu, J., Hao, X., Hu, X., Xing, P., Liu, Y., Lin, L., et al. (2019) · Frontiers in Oncology · doi:10.3389/fonc.2019.00556 · Cited by 39
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Copy number variants in the sheep genome detected using multiple approaches
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Bai, W.-Y., Zhu, X.-W., Cong, P., Zhang, X.-J., Richards, J. B., & Zheng, H. (2019) · Briefings in Bioinformatics · doi:10.1093/bib/bbz108 · Cited by 38
Pylkäs, K., Vuorela, M., Otsukka, M., Kallioniemi, A. H., Jukkola‐Vuorinen, A., & Winqvist, R. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002734 · Cited by 41
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Park, R. W., Kim, T., Kasif, S., & Park, P. J. (2015) · Molecular Cancer · doi:10.1186/s12943-015-0292-6 · Cited by 40
Macé, A., Kutalik, Z., & Valsesia, A. (2018) · Methods in molecular biology · doi:10.1007/978-1-4939-7868-7_14 · Cited by 40
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Rodríguez, M. G., Flath, B., & Chelico, L. (2020) · Open Biology · doi:10.1098/rsob.200188 · Cited by 37
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Kijas, J., Barendse, W., Barris, W., Harrison, B. E., McCulloch, R. J., McWilliam, S. M., & Whan, V. (2011) · Gene · doi:10.1016/j.gene.2011.04.011 · Cited by 37
Carpenter, D., Walker, S., Prescott, N. J., Schalkwijk, J., & Armour, J. A. L. (2011) · BMC Genomics · doi:10.1186/1471-2164-12-418 · Cited by 37
Sapkota, Y. (2014) · Cytogenetic and Genome Research · doi:10.1159/000369045 · Cited by 38
Oppermann, U. C. T. (2013) · Arthritis Research & Therapy · doi:10.1186/ar4186 · Cited by 39
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Petukhova, L., Patel, A. V., Rigo, R. K., Bian, L., Verbitsky, M., Sanna‐Cherchi, S., Erjavec, S., Abdelaziz, A. R., Cerise, J. E., Jabbari, A., et al. (2019) · Experimental Dermatology · doi:10.1111/exd.13986 · Cited by 36
Kolifarhood, G., DANESHPOUR, M. S., Sedaghati-khayat, B., Saadati, H. M., Guity, K., Khosravi, N., Akbarzadeh, M., & Sabour, S. (2019) · Clinical Genetics · doi:10.1111/cge.13527 · Cited by 35
Rincón, G., Tengvall, K., Belanger, J. M., Lagoutte, L., Medrano, J. F. F., André, C., Thomas, A., Lawley, C., Hansen, M. S., Lindblad‐Toh, K., et al. (2011) · BMC Research Notes · doi:10.1186/1756-0500-4-226 · Cited by 35
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Zhai, G., Zhou, J., Woods, M. O., Green, J. S., Parfrey, P. S., Rahman, P., & Green, R. C. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.256 · Cited by 43
Jung, S., Yim, S., Hu, H., Lee, K. H., Lee, J., Sheen, D., Lim, M., Kim, S., Park, S., Kim, S., et al. (2014) · Arthritis & Rheumatology · doi:10.1002/art.38650 · Cited by 36
Jin, G., Sun, J., Liu, W., Zhang, Z., Chu, L. W., Kim, S., Sun, J., Feng, J., Duggan, D. J., Carpten, J. D., et al. (2011) · Carcinogenesis · doi:10.1093/carcin/bgr082 · Cited by 32
Higher DEFB4 genomic copy number in SLE and ANCA-associated small vasculitis
Zhou, S., Cheng, F., Lv, J., Luo, H., Yu, F., Chen, M., Zhao, M., & Zhang, H. (2012) · Rheumatology · doi:10.1093/rheumatology/ker419 · Cited by 36
Kısacık, P., Ünal, E., Akman, Ü., Yapalı, G., Karabulut, E., & Akdoğan, A. (2015) · Complementary Therapies in Clinical Practice · doi:10.1016/j.ctcp.2015.11.002 · Cited by 34
Suszyńska, M., Kluźniak, W., Wokołorczyk, D., Jakubowska, A., Huzarski, T., Gronwald, J., Dębniak, T., Szwiec, M., Ratajska, M., Klonowska, K., et al. (2019) · Cancers · doi:10.3390/cancers11060740 · Cited by 37
The variation game: Cracking complex genetic disorders with NGS and omics data
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Common genetic factors for hematological traits in Humans
Okada, Y., & Kamatani, Y. (2012) · Journal of Human Genetics · doi:10.1038/jhg.2012.2 · Cited by 34
CNVs leading to fusion transcripts in individuals with autism spectrum disorder
Holt, R., Sykes, N., Conceição, I. C., Cazier, J., Anney, R., Oliveira, G., Gallagher, L., Vicente, A. M., Monaco, A. P., & Pagnamenta, A. T. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.73 · Cited by 36
Systematic analysis of copy number variation associated with congenital diaphragmatic hernia
Zhu, Q., High, F. A., Zhang, C., Cerveira, E., Russell, M. K., Longoni, M., Joy, M. P., Ryan, M., Mil-Homens, A., Bellfy, L., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1714885115 · Cited by 37
Cai, N., Bigdeli, T. B., Kretzschmar, W. W., Li, Y., Liang, J., Hu, J., Peterson, R. E., Bacanu, S., Webb, B. T., Riley, B. P., et al. (2017) · Scientific Data · doi:10.1038/sdata.2017.11 · Cited by 32
RetractedSgD-CNV, a database for common and rare copy number variants in three Asian populations
Xu, H., Poh, W.-T., Sim, X., Ong, R. T., Suo, C., Tay, W.-T., Khor, C. C., Seielstad, M. T., Liu, J., Aung, T., et al. (2011) · Human Mutation · doi:10.1002/humu.21601 · Cited by 34
Xuan, C., Zhang, B., Yang, T., Deng, K., Li, M., & Tian, R. (2011) · International Journal of Colorectal Disease · doi:10.1007/s00384-011-1265-x · Cited by 33
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Toft, M., & Ross, O. A. (2010) · Genome Medicine · doi:10.1186/gm183 · Cited by 34
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Hakonarson, H. H., & Grant, S. F. A. (2011) · Diabetes/Metabolism Research and Reviews · doi:10.1002/dmrr.1221 · Cited by 34
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Lillycrop, K. A., Garratt, E. S., Titcombe, P., Melton, P. E., Murray, R. J. S., Barton, S. J., Clarke-Harris, R., Costello, P. M., Holbrook, J. D., Hopkins, J. C. A., et al. (2019) · International Journal of Obesity · doi:10.1038/s41366-018-0254-3 · Cited by 33
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Lettre, G. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2014-102437 · Cited by 36
Bossche, M. J. A. V. D., Stražišar, M., Bruyne, S. D., Bervoets, C., Lenaerts, A., Zutter, S. D., Nordin, A., Norrback, K., Goossens, D., Rijk, P. D., et al. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32053 · Cited by 33
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Metadata
- Authors
- The Wellcome Trust Case Control Consortium
- Venue
- Nature
- Published
- 2010-04
- Volume
- 464
- Issue
- 7289
- Pages
- 713-720
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC2892339
- OpenAlex
- W2130542470
- Cited by
- 807
- References
- 43
- Citations by year
- 2026: 5 · 2025: 11 · 2024: 14 · 2023: 12 · 2022: 22 · 2021: 17 · 2020: 31 · 2019: 40 · 2018: 36 · 2017: 38 · 2016: 42 · 2015: 78 · 2014: 69 · 2013: 88 · 2012: 112
- FWCI
- 69.81
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- Lincoln Repository (University of Lincoln) (acceptedVersion)
- White Rose Research Online (University of Leeds, The University of Sheffield, University of York) (acceptedVersion)
- St George's Online Research Archive (St George's University of London) (acceptedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- PEARL (University of Plymouth) (submittedVersion, other-oa)
- HAL (submittedVersion, other-oa)
- Discovery Research Portal (University of Dundee) (submittedVersion)
- Document Server@UHasselt (UHasselt) (submittedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- Minerva Access (University of Melbourne) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Leicester Research Archive (University of Leicester) (submittedVersion)
- ANU Open Research (Australian National University) (submittedVersion)
- PEARL (University of Plymouth) (submittedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion)
- Queen Mary Research Online (Queen Mary University of London) (submittedVersion)
- Bristol Research (University of Bristol) (submittedVersion)
- ResearchSpace (University of Auckland) (submittedVersion)
- Spiral (Imperial College London) (submittedVersion)
- UEA Digital Repository (University of East Anglia) (submittedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Wellcome Trust (85517, 061858, 089989, 090532, 083948)
- National Institute for Health and Care Research (NF-SI-0508-10299, NF-SI-0508-10335)
- British Heart Foundation (RG/08/014/24067, RG/09/012/28096)
- Versus Arthritis (/17552, 18475)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- copy number variation, common diseases, genetic susceptibility, Crohn's disease, rheumatoid arthritis, type 1 diabetes, type 2 diabetes, IRGM, HLA, TSPAN8, false positive association, Wellcome Trust Case Control Consortium, genetic polymorphism, de novo mutations
- MeSH terms
- Arthritis, Rheumatoid, Crohn Disease, Diabetes Mellitus, Disease, Gene Frequency, Humans, Nucleic Acid Hybridization, Pilot Projects, Quality Control, Case-Control Studies, Genetic Predisposition to Disease, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Genome-Wide Association Study, DNA Copy Number Variations
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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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