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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: liu z, liu s, liu p, liu g. 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.
Association between ADAMTS-4 gene polymorphism and lumbar disc degeneration in Chinese Han population.
Liu S, Wu N, Liu J, Liu H, Su X, Liu Z, Zuo Y, Chen W, Liu G, Chen Y, Ming Y, Yuan T, Li X, Chen J, Xia Z, Wang S, Chen J, Liu T, Yang X, Ma Y, Zhang J, Shen J, Li S, Wang Y, Zhao H, Yu K, Zhao Y, Huang S, Weng X, Qiu G, Wan C, Zhou G, Wu Z. Liu S, et al. Among authors: liu j, liu z, liu h, liu g, liu t. J Orthop Res. 2016 May;34(5):860-4. doi: 10.1002/jor.23081. Epub 2015 Nov 23. J Orthop Res. 2016. PMID: 26495885 Free article.
Progress and perspective of TBX6 gene in congenital vertebral malformations.
Chen W, Liu J, Yuan D, Zuo Y, Liu Z, Liu S, Zhu Q, Qiu G, Huang S, Giampietro PF, Zhang F, Wu N, Wu Z. Chen W, et al. Among authors: liu j, liu z, liu s. Oncotarget. 2016 Aug 30;7(35):57430-57441. doi: 10.18632/oncotarget.10619. Oncotarget. 2016. PMID: 27437870 Free PMC article. Review.
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