Origins and functional impact of copy number variation in the human genome - PubMed (original) (raw)

• The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
  Liu J, Zhou Y, Liu S, Song X, Yang XZ, Fan Y, Chen W, Akdemir ZC, Yan Z, Zuo Y, Du R, Liu Z, Yuan B, Zhao S, Liu G, Chen Y, Zhao Y, Lin M, Zhu Q, Niu Y, Liu P, Ikegawa S, Song YQ, Posey JE, Qiu G; DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) Study; Zhang F, Wu Z, Lupski JR, Wu N. Liu J, et al. Hum Genet. 2018 Jul;137(6-7):553-567. doi: 10.1007/s00439-018-1910-3. Epub 2018 Jul 17. Hum Genet. 2018. PMID: 30019117 Free PMC article.
• A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci.
  Gamazon ER, Nicolae DL, Cox NJ. Gamazon ER, et al. PLoS Genet. 2011 Feb 3;7(2):e1001292. doi: 10.1371/journal.pgen.1001292. PLoS Genet. 2011. PMID: 21304891 Free PMC article.
• Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.
  Wellcome Trust Case Control Consortium; Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, Holmes C, Marchini JL, Stirrups K, Tobin MD, Wain LV, Yau C, Aerts J, Ahmad T, Andrews TD, Arbury H, Attwood A, Auton A, Ball SG, Balmforth AJ, Barrett JC, Barroso I, Barton A, Bennett AJ, Bhaskar S, Blaszczyk K, Bowes J, Brand OJ, Braund PS, Bredin F, Breen G, Brown MJ, Bruce IN, Bull J, Burren OS, Burton J, Byrnes J, Caesar S, Clee CM, Coffey AJ, Connell JM, Cooper JD, Dominiczak AF, Downes K, Drummond HE, Dudakia D, Dunham A, Ebbs B, Eccles D, Edkins S, Edwards C, Elliot A, Emery P, Evans DM, Evans G, Eyre S, Farmer A, Ferrier IN, Feuk L, Fitzgerald T, Flynn E, Forbes A, Forty L, Franklyn JA, Freathy RM, Gibbs P, Gilbert P, Gokumen O, Gordon-Smith K, Gray E, Green E, Groves CJ, Grozeva D, Gwilliam R, Hall A, Hammond N, Hardy M, Harrison P, Hassanali N, Hebaishi H, Hines S, Hinks A, Hitman GA, Hocking L, Howard E, Howard P, Howson JM, Hughes D, Hunt S, Isaacs JD, Jain M, Jewell DP, Johnson T, Jolley JD, Jones IR, Jones LA, Kirov G, Langford CF, Lango-Allen H, Lathrop GM, Lee J, Lee KL, Lees C, Lewis K, Lindgren CM, Maisuria-Ar… See abstract for full author list ➔ Wellcome Trust Case Control Consortium, et al. Nature. 2010 Apr 1;464(7289):713-20. doi: 10.1038/nature08979. Nature. 2010. PMID: 20360734 Free PMC article.
• Implications of germline copy-number variations in psychiatric disorders: review of large-scale genetic studies.
  Nakatochi M, Kushima I, Ozaki N. Nakatochi M, et al. J Hum Genet. 2021 Jan;66(1):25-37. doi: 10.1038/s10038-020-00838-1. Epub 2020 Sep 21. J Hum Genet. 2021. PMID: 32958875 Review.
• An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health.
  Saitou M, Gokcumen O. Saitou M, et al. J Mol Evol. 2020 Jan;88(1):104-119. doi: 10.1007/s00239-019-09911-6. Epub 2019 Sep 14. J Mol Evol. 2020. PMID: 31522275 Review.