Diversity of Human Copy Number Variation and Multicopy Genes
Open accessAbstract
Evolution, Gene Number, and Disease: Slight variations in the numbers of copies of genes influence human disease and other characters. Variants can be hard to detect when they lie in heavily duplicated and widely similar regions of sequence known as “dark matter.” Sudmant et al. (p. 641 ) have methods to tease apart the duplicated regions to reveal singly unique nucleotide identifiers. These have turned out to be among the most variable seen in different human population groups—most notably among genes for neurodevelopment and neurological diseases. Such polymorphisms can be genotyped with specificity and may help us understand how variation in copy number may affect human evolution and disease.
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Genic CNVs (mostly singletons) were assembled for 1,115 different protein-coding genes, confirming earlier mapping-based analyses that predicted the majority of rare genic CNVs occur outside known SDs.
“In detail, we assembled genic CNVs (mostly singletons) for 1,115 different protein-coding genes, confirming earlier mapping-based analyses that predicted that the majority of rare genic CNVs occur outside known SDs31.”
From A draft human pangenome reference. (2023) · cites this paper as [31]
The Results section (‘CNV landscape diversity’; page not provided) reports that CNVs outside segmental duplications were generally rare, while those overlapping duplications were usually more frequent. This supports the cited point about rarity and location, but the analysis concerns large CNVs generally; it does not establish that the majority of rare *genic* CNVs occur outside known segmental duplications. The cited paper also does not report the citing authors’ assembly of CNVs for 1,115 genes. (LLM, conf=0.82)
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Cites
Finding 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 · see citing works
Self-citationA 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
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
Preservation of Duplicate Genes by Complementary, Degenerative Mutations
Force, A., Lynch, M., Pickett, F. B., Amores, A., Yan, Y.-L., & Postlethwait, J. (1999) · Genetics · doi:10.1093/genetics/151.4.1531 · Cited by 3,529 · 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
The Wellcome Trust Case Control Consortium, U.K.
Mossman, K. (2008) · Scientific American · doi:10.1038/scientificamerican0108-42a · Cited by 2,714 · see citing works
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 · see citing works
Large recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745 · see citing works
Recent Segmental Duplications in the Human Genome
Bailey, J. A., Gu, Z., Clark, R. A., Reinert, K., Samonte, R. V., Schwartz, S., Adams, M. D., Myers, E. W., Li, P. W., & Eichler, E. E. (2002) · Science · doi:10.1126/science.1072047 · Cited by 1,355 · see citing works
Self-citationMapping and sequencing of structural variation from eight human genomes
Kidd, J. M., Cooper, G. M., Donahue, W. F., Hayden, H. S., Sampas, N., Graves, T., Hansen, N., Teague, B., Alkan, C., Antonacci, F., et al. (2008) · Nature · doi:10.1038/nature06862 · Cited by 1,119 · see citing works
Self-citationMirnics, K., Middleton, F. A., Marquez, A., Lewis, D. A., & Levitt, P. (2000) · Neuron · doi:10.1016/s0896-6273(00)00085-4 · Cited by 882 · see citing works
A common inversion under selection in Europeans
Stefánsson, H., Helgason, A., Þorleifsson, G., Steinthórsdóttir, V., Másson, G., Barnard, J., Baker, A., Jónasdóttir, Á., Ingason, A., Gudnadottir, V. G., et al. (2005) · Nature Genetics · doi:10.1038/ng1508 · Cited by 830 · see citing works
The Wellcome Trust Case Control Consortium (2010) · Nature · doi:10.1038/nature08979 · Cited by 807 · see citing works
Personalized copy number and segmental duplication maps using next-generation sequencing
Alkan, C., Kidd, J. M., Marques-Bonet, T., Aksay, G., Antonacci, F., Hormozdiari, F., Kitzman, J. O., Baker, C., Malig, M., Mutlu, O., et al. (2009) · Nature Genetics · doi:10.1038/ng.437 · Cited by 748 · see citing works
Self-citationGene conversion: mechanisms, evolution and human disease
Chen, J., Cooper, D. N., Chuzhanova, N. A., Férec, C., & Patrinos, G. P. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2193 · Cited by 689 · see citing works
Siva, N. (2008) · Nature Biotechnology · doi:10.1038/nbt0308-256b · Cited by 629 · see citing works
Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., et al. (2008) · Nature Genetics · doi:10.1038/ng.279 · Cited by 625 · see citing works
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Sharp, A. J., Mefford, H. C., Li, K., Baker, C., Skinner, C., Stevenson, R. E., Schroer, R. J., Novara, F., De Gregori, M., Ciccone, R., et al. (2008) · Nature Genetics · doi:10.1038/ng.93 · Cited by 582 · see citing works
Self-citationGuerrier, S., Coutinho‐Budd, J., Sassa, T., Gresset, A., Jordan, N. V., Chen, K., Jin, W., Frost, A. S., & Polleux, F. (2009) · Cell · doi:10.1016/j.cell.2009.06.047 · Cited by 353 · see citing works
Hageman, G. S., Hancox, L. S., Taiber, A. J., Gehrs, K. M., Anderson, D. H., Johnson, L. V., Radeke, M. J., Kavanagh, D., Richards, A., Atkinson, J. P., et al. (2006) · Annals of Medicine · doi:10.1080/07853890601097030 · Cited by 246 · see citing works
A burst of segmental duplications in the genome of the African great ape ancestor
Marquès‐Bonet, T., Kidd, J. M., Ventura, M., Graves, T., Cheng, Z., Hillier, L., Jiang, Z., Baker, C. A., Malfavon-Borja, R., Fulton, L. A., et al. (2009) · Nature · doi:10.1038/nature07744 · Cited by 245 · see citing works
Self-citationSystematic assessment of copy number variant detection via genome-wide SNP genotyping
Cooper, G. M., Zerr, T., Kidd, J. M., Eichler, E. E., & Nickerson, D. A. (2008) · Nature Genetics · doi:10.1038/ng.236 · Cited by 231 · see citing works
Self-citationJiang, Z., Tang, H., Ventura, M., Cardone, M. F., Marquès‐Bonet, T., She, X., Pevzner, P. A., & Eichler, E. E. (2007) · Nature Genetics · doi:10.1038/ng.2007.9 · Cited by 212 · see citing works
Self-citationShinawi, M. S., Schaaf, C. P., Bhatt, S., Xia, Z., Patel, A., Cheung, S. W., Lanpher, B. C., Nagl, S., Herding, H. S., Nevinny-Stickel, C., et al. (2009) · Nature Genetics · doi:10.1038/ng.481 · Cited by 184 · see citing works
Adaptive Evolution of UGT2B17 Copy-Number Variation
Xue, Y., Sun, D., Daly, A., Yang, F., Zhou, X. P., Zhao, M., Huang, N., Zerjal, T., Lee, C., Carter, N. P., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.08.004 · Cited by 146 · see citing works
Characterization of six human disease-associated inversion polymorphisms
Antonacci, F., Kidd, J. M., Marquès‐Bonet, T., Ventura, M., Siswara, P., Jiang, Z., & Eichler, E. E. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp187 · Cited by 138 · see citing works
Self-citationEdelmann, L., Prosnitz, A., Pardo, S., Bhatt, J., Cohen, N., Lauriat, T., Ouchanov, L., González, P. J., Manghi, E. R., Bondy, P., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2006.044537 · Cited by 113 · see citing works
Pallanck, L. J., Ordway, R. W., & Ganetzky, B. (1995) · Nature · doi:10.1038/376025a0 · Cited by 111 · see citing works
Dai, L., Bellugi, U., Chen, X. ‐., Pulst‐Korenberg, A. M., Järvinen‐Pasley, A., Tirosh‐Wagner, T., Eis, P. S., Graham, J. M., Mills, D. L., Searcy, Y. M., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32652 · Cited by 107 · see citing works
A Candidate Target for G Protein Action in Brain
Chen, L. T., Gilman, A. G., & Kozasa, T. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.38.26931 · Cited by 87 · see citing works
A two-locus gene conversion model with selection and its application to the human RHCE and RHD genes
Innan, H. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1031592100 · Cited by 85 · see citing works
CCL3L1 and HIV/AIDS susceptibility
Urban, T., Weintrob, A., Fellay, J., et al. (2009) · Nature Medicine · doi:10.1038/nm1009-1110 · Cited by 81 · see citing works
Estivill, X. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.17.1987 · Cited by 81 · see citing works
Hirayasu, K., Ohashi, J., Tanaka, H., Kashiwase, K., Ogawa, A., Takanashi, M., Satake, M., Jia, G. J., Chimge, N., Sideltseva, E. W., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.03.012 · Cited by 67 · see citing works
Flagged first, then by citations
Research works printed but not linked: 3
- [19]Brunetti-Pierri N Nat. Genet 2008 40 1466 19029900 PMC2680128
- [27]Marques-Bonet T Nature 2009 457 877 19212409 PMC2751663
- [32]Stefansson H GROUP Nature 2008 455 232 18668039 PMC2687075
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An integrated map of genetic variation from 1,092 human genomes
The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711 · see citing works
High-throughput droplet digital PCR system for absolute quantitation of DNA copy number
Hindson, B. J., Ness, K. D., Masquelier, D. A., Belgrader, P., Heredia, N. J., Makarewicz, A. J., Bright, I. J., Lucero, M. Y., Hiddessen, A. L., Legler, T. C., et al. (2011) · Analytical Chemistry · doi:10.1021/ac202028g · Cited by 2,792 · see citing works
An integrated map of structural variation in 2,504 human genomes
Sudmant, P. H., Rausch, T., Gardner, E. J., Handsaker, R. E., Abyzov, A., Huddleston, J., Zhang, Y., Ye, K., Jun, G., Hsi-Yang Fritz, M., et al. (2015) · Nature · doi:10.1038/nature15394 · Cited by 2,354 · see citing works
Self-citationA high-coverage genome sequence from an archaic denisovan individual
Meyer, M., Kircher, M., Gansauge, M.-T., Li, H., Racimo, F., Mallick, S., Schraiber, J. G., Jay, F., Prüfer, K., de Filippo, C., et al. (2012) · Science · doi:10.1126/science.1224344 · Cited by 1,967 · see citing works
Self-citationGenome structural variation discovery and genotyping
Alkan, C., Coe, B. P., & Eichler, E. E. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2958 · Cited by 1,630 · see citing works
Self-citationA draft human pangenome reference.
Liao, W.-W., Asri, M., Ebler, J., Doerr, D., Haukness, M., Hickey, G., Lu, S., Lucas, J. K., Monlong, J., Abel, H. J., et al. (2023) · Nature · doi:10.1038/s41586-023-05896-x · Cited by 1,129 · see citing works
“Then using the most representative SD we calculated the average length and identity of SDs overlapping each class of unreliable region for all the 94 haplotypes and compared the length of identity of SDs that overlapped the different types of errors in the assembly.”
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O'Roak, B. J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J. J., Girirajan, S., Karakoc, E., MacKenzie, A. P., Ng, S. B., Baker, C., et al. (2011) · Nature Genetics · doi:10.1038/ng.835 · Cited by 1,203 · see citing works
Self-citationMapping copy number variation by population-scale genome sequencing
1000 Genomes Project, Mills, R. E., Walter, K., Stewart, C., Handsaker, R. E., Chen, K., Alkan, C., Abyzov, A., Yoon, S. C., Ye, K., et al. (2011) · Nature · doi:10.1038/nature09708 · Cited by 1,140 · see citing works
Self-citationSchneider, V. A., Graves-Lindsay, T., Howe, K., Bouk, N., Chen, H.-C., Kitts, P. A., Murphy, T. D., Pruitt, K. D., Thibaud-Nissen, F., Albracht, D., et al. (2017) · Genome Research · doi:10.1101/gr.213611.116 · Cited by 1,193 · see citing works
Self-citationThe yak genome and adaptation to life at high altitude
Qiu, Q., Zhang, G., Ma, T., Qian, W., Wang, J., Ye, Z., Cao, C., Hu, Q., Kim, J., Larkin, D. M., et al. (2012) · Nature Genetics · doi:10.1038/ng.2343 · Cited by 971 · see citing works
A copy number variation map of the human genome
Zarrei, M., MacDonald, J. R., Merico, D., & Scherer, S. W. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3871 · Cited by 921 · see citing works
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854 · see citing works
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
Ebert, P., Audano, P. A., Zhu, Q., Rodriguez-Martin, B., Porubsky, D., Bonder, M. J., Sulovari, A., Ebler, J., Zhou, W., Serra Mari, R., et al. (2021) · Science · doi:10.1126/science.abf7117 · Cited by 702 · see citing works
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Self-citationHuman-specific gene <i>ARHGAP11B</i> promotes basal progenitor amplification and neocortex expansion
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Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis
Fiddes, I. T., Lodewijk, G. A., Mooring, M., Bosworth, C. M., Ewing, A. D., Mantalas, G. L., Novak, A. M., van den Bout, A., Bishara, A., Rosenkrantz, J. L., et al. (2018) · Cell · doi:10.1016/j.cell.2018.03.051 · Cited by 595 · see citing works
Self-citationEspuny-Camacho, I., Michelsen, K. A., Gall, D., Linaro, D., Hasche, A., Bonnefont, J., Bali, C., Orduz, D., Bilheu, A., Herpoel, A., et al. (2013) · Neuron · doi:10.1016/j.neuron.2012.12.011 · Cited by 568 · see citing works
Evolution of the Human Nervous System Function, Structure, and Development
Sousa, A. M. M., Meyer, K. A., Santpere, G., Gulden, F. O., & Sestan, N. (2017) · Cell · doi:10.1016/j.cell.2017.06.036 · Cited by 517 · see citing works
Inhibition of SRGAP2 function by its human-specific paralogs induces neoteny during spine maturation
Charrier, C., Joshi, K., Coutinho-Budd, J., Kim, J.-E., Lambert, N., de Marchena, J., Jin, W.-L., Vanderhaeghen, P., Ghosh, A., Sassa, T., et al. (2012) · Cell · doi:10.1016/j.cell.2012.03.034 · Cited by 454 · see citing works
New genes as drivers of phenotypic evolution
Chen, S., Krinsky, B. H., & Long, M. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3521 · Cited by 428 · see citing works
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication
Dennis, M. Y., Nuttle, X., Sudmant, P. H., Antonacci, F., Graves, T. A., Nefedov, M., Rosenfeld, J. A., Sajjadian, S., Malig, M., Kotkiewicz, H., et al. (2012) · Cell · doi:10.1016/j.cell.2012.03.033 · Cited by 407 · see citing works
Self-citationA complete reference genome improves analysis of human genetic variation
Aganezov, S., Yan, S. M., Soto, D. C., Kirsche, M., Zarate, S., Avdeyev, P., Taylor, D. J., Shafin, K., Shumate, A., Xiao, C., et al. (2022) · Science · doi:10.1126/science.abl3533 · Cited by 441 · see citing works
Zeng, H., Shen, E. H., Hohmann, J. G., Oh, S. W., Bernard, A., Royall, J. J., Glattfelder, K. J., Sunkin, S. M., Morris, J. A., Guillozet-Bongaarts, A. L., et al. (2012) · Cell · doi:10.1016/j.cell.2012.02.052 · Cited by 426 · see citing works
Segmental duplications and their variation in a complete human genome
Vollger, M. R., Guitart, X., Dishuck, P. C., Mercuri, L., Harvey, W. T., Gershman, A., Diekhans, M., Sulovari, A., Munson, K. M., Lewis, A. P., et al. (2022) · Science · doi:10.1126/science.abj6965 · Cited by 350 · see citing works
Self-citationGlobal diversity, population stratification, and selection of human copy-number variation
Sudmant, P. H., Mallick, S., Nelson, B. J., Hormozdiari, F., Krumm, N., Huddleston, J., Coe, B. P., Baker, C., Nordenfelt, S., Bamshad, M., et al. (2015) · Science · doi:10.1126/science.aab3761 · Cited by 345 · see citing works
Self-citationEpigenetic patterns in a complete human genome
Gershman, A., Sauria, M. E. G., Guitart, X., Vollger, M. R., Hook, P. W., Hoyt, S. J., Jain, M., Shumate, A., Razaghi, R., Koren, S., et al. (2022) · Science · doi:10.1126/science.abj5089 · Cited by 297 · see citing works
Self-citationLow copy number of the salivary amylase gene predisposes to obesity
Falchi, M., El-Sayed Moustafa, J. S., Takousis, P., Pesce, F., Bonnefond, A., Andersson-Assarsson, J. C., Sudmant, P. H., Dorajoo, R., Al-Shafai, M. N., Bottolo, L., et al. (2014) · Nature Genetics · doi:10.1038/ng.2939 · Cited by 254 · see citing works
Self-citationThe evolution and population diversity of human-specific segmental duplications
Dennis, M. Y., Harshman, L., Nelson, B. J., Penn, O., Cantsilieris, S., Huddleston, J., Antonacci, F., Penewit, K., Denman, L., Raja, A., et al. (2017) · Nature Ecology & Evolution · doi:10.1038/s41559-016-0069 · Cited by 159 · see citing works
Self-citationPendleton, A. L., Shen, F., Taravella, A. M., Emery, S., Veeramah, K. R., Boyko, A. R., & Kidd, J. M. (2018) · BMC Biology · doi:10.1186/s12915-018-0535-2 · Cited by 156 · see citing works
Brain Plasticity and Human Evolution
Sherwood, C. C., & Gómez-Robles, A. (2017) · Annual Review of Anthropology · doi:10.1146/annurev-anthro-102215-100009 · Cited by 170 · see citing works
Developmental mechanisms underlying the evolution of human cortical circuits
Vanderhaeghen, P., & Polleux, F. (2023) · Nature Reviews Neuroscience · doi:10.1038/s41583-023-00675-z · Cited by 173 · see citing works
Evolution of genetic and genomic features unique to the human lineage
O'Bleness, M., Searles, V. B., Varki, A., Gagneux, P., & Sikela, J. M. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3336 · Cited by 168 · see citing works
Gibbons, J. G., Branco, A. T., Yu, S., & Lemos, B. (2014) · Nature Communications · doi:10.1038/ncomms5850 · Cited by 165 · see citing works
Prioritization of neurodevelopmental disease genes by discovery of new mutations
Hoischen, A., Krumm, N., & Eichler, E. E. (2014) · Nature Neuroscience · doi:10.1038/nn.3703 · Cited by 149 · see citing works
Self-citationFossati, M., Pizzarelli, R., Schmidt, E. R., Kupferman, J. V., Stroebel, D., Polleux, F., & Charrier, C. (2016) · Neuron · doi:10.1016/j.neuron.2016.06.013 · Cited by 133 · see citing works
Increased mutation and gene conversion within human segmental duplications
Vollger, M. R., Dishuck, P. C., Harvey, W. T., DeWitt, W. S., Guitart, X., Goldberg, M. E., Rozanski, A. N., Lucas, J., Asri, M., Human Pangenome Reference Consortium, et al. (2023) · Nature · doi:10.1038/s41586-023-05895-y · Cited by 104 · see citing works
Self-citationEpi4K: Gene discovery in 4,000 genomes
The Epi4K Consortium (2012) · Epilepsia · doi:10.1111/j.1528-1167.2012.03511.x · Cited by 85 · see citing works
A human-specific modifier of cortical connectivity and circuit function
Schmidt, E. R. E., Zhao, H. T., Park, J. M., Dipoppa, M., Monsalve-Mercado, M. M., Dahan, J. B., Rodgers, C. C., Lejeune, A., Hillman, E. M. C., Miller, K. D., et al. (2021) · Nature · doi:10.1038/s41586-021-04039-4 · Cited by 82 · see citing works
Cellular and Molecular Mechanisms Linking Human Cortical Development and Evolution
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Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease
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Schmidt, E. R. E., Kupferman, J. V., Stackmann, M., & Polleux, F. (2019) · Scientific Reports · doi:10.1038/s41598-019-54887-4 · Cited by 55 · see citing works
Gaps and complex structurally variant loci in phased genome assemblies
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Self-citationStructural history of human SRGAP2 proteins
Sporny, M., Guez-Haddad, J., Kreusch, A., Shakartzi, S., Neznansky, A., Cross, A., Isupov, M. N., Qualmann, B., Kessels, M. M., & Opatowsky, Y. (2017) · Molecular Biology and Evolution · doi:10.1093/molbev/msx094 · Cited by 41 · see citing works
Mohajeri, K., Cantsilieris, S., Huddleston, J., Nelson, B. J., Coe, B. P., Campbell, C. D., Baker, C., Harshman, L., Munson, K. M., Kronenberg, Z. N., et al. (2016) · Genome Research · doi:10.1101/gr.211284.116 · Cited by 42 · see citing works
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- Authors
- Sudmant, P. H., Kitzman, J. O., Antonacci, F., Alkan, C., Malig, M., Tsalenko, A., Sampas, N., Bruhn, L., Shendure, J., 1000 Genomes Project, & Eichler, E. E.
- Affiliations
- University of Washington (US)
- Agilent Technologies (United States) (US)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Sudmant, Peter H.
- Kitzman, Jacob O.
- Eichler, Evan E.
- ORCID
- Venue
- Science
- Published
- 2010-10-29
- Volume
- 330
- Issue
- 6004
- Pages
- 641-646
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC3020103
- OpenAlex
- W2163809592
- Cited by
- 667
- References
- 34
- Citations by year
- 2026: 14 · 2025: 16 · 2024: 31 · 2023: 40 · 2022: 24 · 2021: 23 · 2020: 35 · 2019: 41 · 2018: 32 · 2017: 38 · 2016: 41 · 2015: 56 · 2014: 54 · 2013: 61 · 2012: 90
- FWCI
- 39.79
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Civil War Book Review (submittedVersion)
- Max Planck Institute for Plasma Physics (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- CINECA IRIS Institutional Research Information System (University of Bari Aldo Moro) (submittedVersion, other-oa)
- STM:n Hallinnonalan avoin julkaisuarkisto (Julkari) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- Wellcome Trust (085532)
- National Institute for Health and Care Research (NF-SI-0508-10212)
- National Human Genome Research Institute (U54HG003067, P01HG004120, U54HG003273, HG004120)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Keywords
- copy number variation, multi-copy genes, gene duplication, paralogs, single nucleotide polymorphisms, gene conversion, brain development genes, population genetic variation, disease association
- MeSH terms
- Chromosome Mapping, Female, Gene Conversion, Gene Frequency, Genotype, Haplotypes, Humans, Male, Genetic Variation, Genome, Human, Sequence Analysis, DNA, Gene Dosage, Evolution, Molecular, Genes, Duplicate, Gene Duplication, Polymorphism, Single Nucleotide, Genomics, Databases, Nucleic Acid, Racial Groups, DNA Copy Number Variations
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 ›
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