Copy number variations and cancer
Open accessAbstract
DNA copy number variations (CNVs) are an important component of genetic variation, affecting a greater fraction of the genome than single nucleotide polymorphisms (SNPs). The advent of high-resolution SNP arrays has made it possible to identify CNVs. Characterization of widespread constitutional (germline) CNVs has provided insight into their role in susceptibility to a wide spectrum of diseases, and somatic CNVs can be used to identify regions of the genome involved in disease phenotypes. The role of CNVs as risk factors for cancer is currently underappreciated. However, the genomic instability and structural dynamism that characterize cancer cells would seem to make this form of genetic variation particularly intriguing to study in cancer. Here, we provide a detailed overview of the current understanding of the CNVs that arise in the human genome and explore the emerging literature that reveals associations of both constitutional and somatic CNVs with a wide variety of human cancers.
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?
CNV measurements are used for routine screening in clinical diagnostics and their analysis can assist in subsequent prognostic monitoring.
“CNV measurements are used for routine screening in clinical diagnostics and their analysis can assist in subsequent prognostic monitoring (6,7).”
From Comparison of microfluidic digital PCR and conventional quantitative PCR for measuring copy number variation (2012) · cites this paper as [6]
The Conclusions and perspectives section says cancer CNVs may become biomarkers of cancer progression and metastases, which supports a potential prognostic use. It frames that value as prospective, however, and does not say CNV measurement is used for routine clinical screening or subsequent prognostic monitoring. Page numbers are unavailable in our copy. (LLM, conf=0.83)
Experimental — accuracy not yet measured
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
Hanahan, D., & Weinberg, R. A. (2000) · Cell · doi:10.1016/s0092-8674(00)81683-9 · Cited by 29,219 · see citing works
Comprehensive genomic characterization defines human glioblastoma genes and core pathways
The Cancer Genome Atlas Research Network (2008) · Nature · doi:10.1038/nature07385 · Cited by 7,735 · see citing works
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 4,276 · see citing works
A census of human cancer genes
Futreal, P. A., Coin, L., Marshall, M., Down, T., Hubbard, T., Wooster, R., Rahman, N., & Stratton, M. R. (2004) · Nature Reviews Cancer · doi:10.1038/nrc1299 · Cited by 3,184 · see citing works
Detection of large-scale variation in the human genome
Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892 · see citing works
Schouten, J. P. (2002) · Nucleic Acids Research · doi:10.1093/nar/gnf056 · Cited by 2,705 · see citing works
Large-scale copy number polymorphism in the human genome
Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., et al. (2004) · Science · doi:10.1126/science.1098918 · Cited by 2,557 · see citing works
McDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A. S., Zackai, E. H., Emanuel, B. S., Vermeesch, J. R., Morrow, B. E., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.71 · Cited by 2,236 · see citing works
Structural variation in the human genome
Feuk, L., Carson, A. R., & Scherer, S. W. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1767 · Cited by 2,051 · see citing works
Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia
Mullighan, C. G., Goorha, S., Radtke, I., Miller, C. B., Coustan‐Smith, E., Dalton, J., Girtman, K., Mathew, S., Ma, J., Pounds, S. B., et al. (2007) · Nature · doi:10.1038/nature05690 · Cited by 1,798 · see citing works
Personal genomes: The case of the missing heritability
Maher, B. (2008) · Nature · doi:10.1038/456018a · Cited by 1,737 · see citing works
Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes
Stranger, B. E., Forrest, M. S., Dunning, M., Ingle, C., Beazley, C., Thorne, N., Redon, R., Bird, C., Grassi, A., Lee, C., et al. (2007) · Science · doi:10.1126/science.1136678 · Cited by 1,709 · see citing works
Characterizing the cancer genome in lung adenocarcinoma
Weir, B. A., Woo, M. S., Getz, G., Perner, S., Ding, L., Beroukhim, R., Lin, W. M., Province, M. A., Kraja, A., Johnson, L. A., et al. (2007) · Nature · doi:10.1038/nature06358 · Cited by 1,105 · see citing works
Integrated detection and population-genetic analysis of SNPs and copy number variation
McCarroll, S. A., Kuruvilla, F. G., Korn, J. M., Cawley, S., Nemesh, J., Wysoker, A., Shapero, M. H., de Bakker, P. I. W., Maller, J. B., Kirby, A., et al. (2008) · Nature Genetics · doi:10.1038/ng.238 · Cited by 936 · see citing works
The Catalogue of Somatic Mutations in Cancer (COSMIC)
Forbes, S. A., Bhamra, G., Bamford, S., Dawson, E., Kok, C. Y., Clements, J., Menzies, A. H., Teague, J. W., Futreal, P. A., & Stratton, M. R. (2008) · Current Protocols in Human Genetics · doi:10.1002/0471142905.hg1011s57 · Cited by 899 · see citing works
Long-Range Control of Gene Expression: Emerging Mechanisms and Disruption in Disease
Kleinjan, D. A., & van Heyningen, V. (2004) · The American Journal of Human Genetics · doi:10.1086/426833 · Cited by 868 · see citing works
Copy-number variation and association studies of human disease
McCarroll, S. A., & Altshuler, D. M. (2007) · Nature Genetics · doi:10.1038/ng2080 · Cited by 622 · see citing works
Thomas, G. D., Jacobs, K. B., Kraft, P., Yeager, M., Wacholder, S., Cox, D. G., Hankinson, S. E., Hutchinson, A. A., Wang, Z., Yu, K. F., et al. (2009) · Nature Genetics · doi:10.1038/ng.353 · Cited by 536 · see citing works
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients
Petrij-Bosch, A., Peelen, T., van Vliet, M., van Eijk, R., Olmer, R., Drüsedau, M., Hogervorst, F. B. L., Hageman, S., Arts, P. J. W., Ligtenberg, M. J. L., et al. (1997) · Nature Genetics · doi:10.1038/ng1197-341 · Cited by 432 · see citing works
Meyer-Lindenberg, A., Mervis, C. B., & Faith Berman, K. (2006) · Nature Reviews Neuroscience · doi:10.1038/nrn1906 · Cited by 411 · see citing works
Highly penetrant hereditary cancer syndromes
Nagy, R. S., Sweet, K. M., & Eng, C. (2004) · Oncogene · doi:10.1038/sj.onc.1207714 · Cited by 379 · see citing works
The Fine-Scale and Complex Architecture of Human Copy-Number Variation
Perry, G. H., Ben‐Dor, A., Tsalenko, A., Sampas, N., Rodríguez‐Revenga, L., Tran, C. W., Scheffer-Wong, A., Steinfeld, I., Tsang, P. W. K., Yamada, N. A., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.010 · Cited by 346 · see citing works
Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology
Bittel, D. C., & Butler, M. G. (2005) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399405009531 · Cited by 331 · see citing works
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders
Turner, D. J., Miretti, M., Rajan, D., Fiegler, H., Carter, N. P., Blayney, M. L., Beck, S., & Hurles, M. E. (2008) · Nature Genetics · doi:10.1038/ng.2007.40 · Cited by 320 · see citing works
M OLECULAR M ECHANISMS FOR G ENOMIC D ISORDERS
Inoue, K., & Lupski, J. R. (2002) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.3.032802.120023 · Cited by 318 · see citing works
Segmental copy number variation shapes tissue transcriptomes
Hor, C. N., Vinckenbosch, N., Zöllner, S. K., Chaignat, E., Pradervand, S., Schütz, F., Rüedi, M., Kaessmann, H., & Reymond, A. (2009) · Nature Genetics · doi:10.1038/ng.345 · Cited by 312 · see citing works
Founding mutations and Alu-mediated recombination in hereditary colon cancer
Nyström, M., Kristo, P., Nicolaides, N. C., Chang, S.-Y. P., Aaltonen, L. A., Moisio, A., Järvinen, H., Mecklin, J., Kinzler, K. W., Vogelstein, B., et al. (1995) · Nature Medicine · doi:10.1038/nm1195-1203 · Cited by 299 · see citing works
Elsea, S. H., & Girirajan, S. (2008) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5202009 · Cited by 241 · see citing works
Human MHC architecture and evolution: implications for disease association studies
Traherne, J. A. (2008) · International Journal of Immunogenetics · doi:10.1111/j.1744-313x.2008.00765.x · Cited by 232 · see citing works
Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families
Bougeard, G., Sesboüé, R., Baert-Desurmont, S., Vasseur, S., Martin, C., Tinat, J., Brugières, L., Chompret, A., Paillerets, B. B.-D., Stoppa-Lyonnet, D., et al. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2008.057570 · Cited by 230 · see citing works
Excessive genomic DNA copy number variation in the Li–Fraumeni cancer predisposition syndrome
Shlien, A., Tabori, U. Y., Marshall, C. R., Pieńkowska, M., Feuk, L., Novokmet, A., Nanda, S., Druker, H. A., Scherer, S. W., & Malkin, D. M. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0802970105 · Cited by 202 · see citing works
Self-citationGenetic association analysis of copy-number variation (CNV) in human disease pathogenesis
Ionita-Laza, I., Rogers, A. J., Lange, C., Raby, B. A., & Lee, C. (2009) · Genomics · doi:10.1016/j.ygeno.2008.08.012 · Cited by 198 · see citing works
Distribution and functional impact of DNA copy number variation in the rat
Guryev, V., Saar, K., Adamović, T., Verheul, M., van Heesch, S., Cook, S. A., Pravenec, M., Aitman, T. J., Jacob, H. J., Shull, J. D., et al. (2008) · Nature Genetics · doi:10.1038/ng.141 · Cited by 197 · see citing works
Montagna, M. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg120 · Cited by 183 · see citing works
Kozłowski, P., Roberts, P. S., Dabora, S. L., Franz, D. N., Bissler, J. J., Northrup, H., Au, K. S., Lazarus, R. M., Domańska‐Pakieła, D., Kotulska, K., et al. (2007) · Human Genetics · doi:10.1007/s00439-006-0308-9 · Cited by 180 · see citing works
CancerGenes: a gene selection resource for cancer genome projects
Higgins, M. E., Claremont, M., Major, J. E., Sander, C., & Lash, A. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl811 · Cited by 179 · see citing works
Merla, G., Howald, C., Hor, C. N., Lyle, R., Wyss, C., Zabot, M. T., Antonarakis, S. E., & Reymond, A. (2006) · The American Journal of Human Genetics · doi:10.1086/506371 · Cited by 178 · see citing works
Evidence for WT1 as a Wilms tumor (WT) gene: intragenic germinal deletion in bilateral WT.
Huff, V., Miwa, H., Haber, D. A., Call, K. M., Housman, D. E., Strong, L. C., & Saunders, G. F. (1991) · Europe PMC (PubMed Central) · Cited by 165 · see citing works
Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis
van Hattem, W. A., Brosens, L. A. A., de Leng, W. W. J., Morsink, F. H. M., Lens, S. I., Carvalho, R., Giardiello, F. M., & Offerhaus, G. J. A. (2008) · Gut · doi:10.1136/gut.2007.142927 · Cited by 155 · see citing works
Clinical and Genetic Characteristics of Patients with Neurofibromatosis Type 1 and Pheochromocytoma
Bausch, B., Borozdin, W., & Neumann, H. P. H. (2006) · New England Journal of Medicine · doi:10.1056/nejmc066006 · Cited by 147 · see citing works
Delnatte, C., Sanlaville, D., Mougenot, J.-F., Vermeesch, J. R., Houdayer, C., de Blois, M., Geneviève, D., Goulet, O., Fryns, J., Jaubert, F., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/504301 · Cited by 147 · see citing works
Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2
Tsilchorozidou, T., Menko, F. H., Lalloo, F. I., Kidd, A., Silva, R. D., Thomas, H., Smith, P., Malcolmson, A., Dore, J., Madan, K., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.016774 · Cited by 125 · see citing works
Cybulski, C., Wokołorczyk, D., Huzarski, T., Byrski, T., Gronwald, J., Górski, B., Dębniak, T., Masojć, B., Jakubowska, A., Gliniewicz, B., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.044974 · Cited by 116 · see citing works
A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland
Cybulski, C., Wokołorczyk, D., Huzarski, T., Byrski, T., Gronwald, J., Górski, B., Dębniak, T., Masojć, B., Jakubowska, A., van de Wetering, T., et al. (2006) · Breast Cancer Research and Treatment · doi:10.1007/s10549-006-9320-y · Cited by 114 · see citing works
Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome
Prasad, S. E., Howley, S., & Murphy, K. C. (2008) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.5 · Cited by 111 · see citing works
Riva, P., Corrado, L., Natacci, F., Castorina, P., Wu, B.-L., Schneider, G. H., Clementi, M., Tenconi, R., Korf, B. R., & Larizza, L. (2000) · The American Journal of Human Genetics · doi:10.1086/302709 · Cited by 107 · see citing works
Large Deletions of the PRKAR1A Gene in Carney Complex
Horvath, A., Bossis, I., Giatzakis, C., Levine, E., Weinberg, F. D., Meoli, E., Robinson-White, A. J., Siegel, J., Soni, P., Groussin, L., et al. (2008) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-07-1155 · Cited by 106 · see citing works
Swensen, J. J., Keyser, J., Coffin, C. M., Biegel, J. A., Viskochil, D. H., & Williams, M. S. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.060152 · Cited by 105 · see citing works
Deletion of RBExons 24 and 25 Causes Low-Penetrance Retinoblastoma
Bremner, R., Du, D., Connolly-Wilson, M., Bridge, P. J., Ahmad, K. F., Mostachfi, H., Rushlow, D., Dunn, J. M., & Gallie, B. L. (1997) · The American Journal of Human Genetics · doi:10.1086/515499 · Cited by 102 · see citing works
Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk
Frank, B., Bermejo, J. L., Hemminki, K., Sutter, C., Wappenschmidt, B., Meindl, A., Kiechle, M. B., Bugert, P., Schmutzler, R. K., Bartram, C. R., et al. (2007) · Carcinogenesis · doi:10.1093/carcin/bgm033 · Cited by 100 · see citing works
Levran, O., Diotti, R., Pujara, K., Batish, S. D., Hanenberg, H., & Auerbach, A. D. (2005) · Human Mutation · doi:10.1002/humu.20125 · Cited by 96 · see citing works
McWhinney, S. R., Pilarski, R. T., Forrester, S. R., Schneider, M. C., Sarquis, M. M., Dias, E. P., & Eng, C. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-0769 · Cited by 89 · see citing works
Aretz, S., Stienen, D., Uhlhaas, S., Pagenstecher, C., Mangold, E., Caspari, R., Propping, P., & Friedl, W. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.022822 · Cited by 85 · see citing works
Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis
Su, L., Steinbach, G., Sawyer, J. C., Hindi, M., Ward, P. A., & Lynch, P. M. (2000) · Human Genetics · doi:10.1007/s004399900195 · Cited by 83 · see citing works
Gault, J., Hopkins, J. A., Berger, R., Drebing, C. J., Logel, J., Walton, C., Short, M., Vianzon, R., D, A. O. M., Ross, R. G., et al. (2003) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.20061 · Cited by 83 · see citing works
Bougeard, G., Brugières, L., Chompret, A., Gesta, P., Charbonnier, F., Valent, A., Martin, C., Raux, G., Feunteun, J., Paillerets, B. B., et al. (2003) · Oncogene · doi:10.1038/sj.onc.1206155 · Cited by 80 · see citing works
An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma
Baysal, B. E., Willett-Brozick, J. E., Filho, P. A. A., Lawrence, E. C., Myers, E. N., & Ferrell, R. E. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2004.019224 · Cited by 78 · see citing works
Jackson, E. M., Shaikh, T. H., Gururangan, S., Jones, M. C., Malkin, D. M., Nikkel, S. M., Zuppan, C. W., Wainwright, L. M., Zhang, F., & Biegel, J. A. (2007) · Human Genetics · doi:10.1007/s00439-007-0386-3 · Cited by 75 · see citing works
Self-citationMolecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.
Shimkets, R. A., Gailani, M. R., Siu, V. M., Yang‐Feng, T. L., Pressman, C. L., Levanat, S., Goldstein, A. M., Dean, M. C., & Bale, A. E. (1996) · PubMed Central · Cited by 74 · see citing works
Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: A possible hot spot?
Cascón, A., Montero‐Conde, C., Ruiz‐Llorente, S., Mercadillo, F., Letón, R., Rodríguez‐Antona, C., Martínez–Delgado, B., Delgado, M., Díez, A., Rovira, A., et al. (2005) · Genes Chromosomes and Cancer · doi:10.1002/gcc.20283 · Cited by 73 · see citing works
A Large Germline Deletion of the MEN1 Gene in a Family with Multiple Endocrine Neoplasia Type 1
真理, 岸., Tsukada, T., Shimizu, S., Futami, H., Ito, Y., Kanbe, M., Obara, T., & Yamaguchi, K. D. (1998) · Japanese Journal of Cancer Research · doi:10.1111/j.1349-7006.1998.tb00470.x · Cited by 66 · see citing works
Hodgson, S. V., Coonar, A. S., Hanson, P. J. V., Cottrell, S., Scriven, P. N., Jones, T. A., Hawley, P. R., & Wilkinson, M. L. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.5.369 · Cited by 65 · see citing works
Richards, F. M., Phipps, M. E., Latlf, F., Yao, M., Crossey, P. A., Foster, K., Linehan, W. M., Affara, N. A., Lerman, M. I., Zbar, B., et al. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.7.879 · Cited by 62 · see citing works
The contribution of germline rearrangements to the spectrum of BRCA2 mutations
Casilli, F., Tournier, I., Sinilnikova, O. M., Coulet, F., Soubrier, F., Houdayer, C., Hardouin, A., Berthet, P., Sobol, H., Bourdon, V., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2005.040212 · Cited by 59 · see citing works
Su, L.-K., Steinbach, G., Sawyer, J. C., Hindi, M., Ward, P. A., & Lynch, P. M. (2000) · Human Genetics · doi:10.1007/s004390051016 · Cited by 55 · see citing works
Stella, A., Surdo, N. C., Stella, A., Barana, D., Oliani, C., Tibiletti, M., Viel, A., Natale, C., Piepoli, A., Marra, G., et al. (2007) · Clinical Genetics · doi:10.1111/j.1399-0004.2007.00745.x · Cited by 49 · see citing works
Complete germline deletion of the STK11 gene in a family with Peutz–Jeghers syndrome
Meur, N. L., Martin, C., Saugier-Véber, P., Joly‐Hélas, G., Lemoine, F., Moirot, H., Rossi, A., Bachy, B., Cabot, A., Joly, P., et al. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201155 · Cited by 47 · see citing works
Chan, T. L., Yuen, S. T., Ho, J. W. C., Chan, A. S. Y., Kwan, K., Chung, L.-P., Lam, P. W. Y., Tse, C. W., & Leung, S. Y. (2001) · Oncogene · doi:10.1038/sj.onc.1204376 · Cited by 38 · see citing works
The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma
French Familial Melanoma Study Group, Lesueur, F., de Lichy, M., Barrois, M., Durand, G., Bombled, J., Avril, M., Chompret, A., Boitier, F., Lenoir, G., et al. (2008) · British Journal of Cancer · doi:10.1038/sj.bjc.6604470 · Cited by 32 · see citing works
Plaschke, J., Rüschoff, J., & Schackert, H. K. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.8.597 · Cited by 32 · see citing works
Charames, G. S., Ramyar, L., Mitri, A., Berk, T., Cheng, H., Jung, J. H., Bocangel, P., Chodirker, B. N., Greenberg, C. R., Spriggs, E., et al. (2008) · Human Genetics · doi:10.1007/s00439-008-0579-4 · Cited by 27 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Whale, A. S., Huggett, J. F., Cowen, S., Speirs, V., Shaw, J., Ellison, S., Foy, C. A., & Scott, D. J. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks203 · Cited by 453 · see citing works
“CNV measurements are used for routine screening in clinical diagnostics and their analysis can assist in subsequent prognostic monitoring (6,7).”
MethodExpandable and reversible copy number amplification drives rapid adaptation to antifungal drugs
Todd, R. T., & Selmecki, A. (2020) · eLife · doi:10.7554/elife.58349 · Cited by 138 · see citing works
Yu, D., Liu, Z., Su, C., Han, Y., Duan, X., Zhang, R., Liu, X., Yang, Y., & Xu, S. (2020) · Thoracic Cancer · doi:10.1111/1759-7714.13204 · Cited by 80 · see citing works
Seal, D. B., Das, V., Goswami, S., & De, R. K. (2020) · Genomics · doi:10.1016/j.ygeno.2020.03.021 · Cited by 69 · see citing works
- Authors
- Shlien, A., & Malkin, D.
- Affiliations
- University of Toronto (CA)
- Corresponding author
- Malkin, David
- Venue
- Genome Medicine
- Published
- 2009
- Volume
- 1
- Issue
- 6
- Pages
- 62
- ISSN
- 1756-994X (ISSN-L)
- DOI
- 10.1186/gm62
- PMC
- PMC2703871
- OpenAlex
- W2107751484
- Cited by
- 386
- References
- 71
- Citations by year
- 2026: 13 · 2025: 18 · 2024: 37 · 2023: 20 · 2022: 41 · 2021: 38 · 2020: 28 · 2019: 31 · 2018: 33 · 2017: 22 · 2016: 17 · 2015: 22 · 2014: 10 · 2013: 17 · 2012: 10
- FWCI
- 7.41
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Genome Medicine (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- copy number variation, cancer susceptibility, genomic instability, cancer risk factors, genetic variation, SNP array
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
