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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. Among authors: fan y. 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 meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups.
Londono D, Kou I, Johnson TA, Sharma S, Ogura Y, Tsunoda T, Takahashi A, Matsumoto M, Herring JA, Lam TP, Wang X, Tam EM, Song YQ, Fan YH, Chan D, Cheah KS, Qiu X, Jiang H, Huang D; Japanese Scoliosis Clinical Research Group; TSRHC IS Clinical Group, International Consortium for Scoliosis Genetics, Su P, Sham P, Cheung KM, Luk KD, Gordon D, Qiu Y, Cheng J, Tang N, Ikegawa S, Wise CA. Londono D, et al. Among authors: fan yh. J Med Genet. 2014 Jun;51(6):401-6. doi: 10.1136/jmedgenet-2013-102067. Epub 2014 Apr 10. J Med Genet. 2014. PMID: 24721834
Functional variants regulating LGALS1 (Galectin 1) expression affect human susceptibility to influenza A(H7N9).
Chen Y, Zhou J, Cheng Z, Yang S, Chu H, Fan Y, Li C, Wong BH, Zheng S, Zhu Y, Yu F, Wang Y, Liu X, Gao H, Yu L, Tang L, Cui D, Hao K, Bossé Y, Obeidat M, Brandsma CA, Song YQ, To KK, Sham PC, Yuen KY, Li L. Chen Y, et al. Among authors: fan y. Sci Rep. 2015 Feb 17;5:8517. doi: 10.1038/srep08517. Sci Rep. 2015. PMID: 25687228 Free PMC article.
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