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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: ikegawa s. 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.
Dinucleotide repeat polymorphism on chromosome 9q32.
Toda T, Ikegawa S, Miyake M, Nakahori Y, Nakamura Y. Toda T, et al. Among authors: ikegawa s. Jpn J Hum Genet. 1995 Dec;40(4):333-4. doi: 10.1007/BF01900600. Jpn J Hum Genet. 1995. PMID: 8851767
Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine.
Tanaka T, Ikari K, Furushima K, Okada A, Tanaka H, Furukawa K, Yoshida K, Ikeda T, Ikegawa S, Hunt SC, Takeda J, Toh S, Harata S, Nakajima T, Inoue I. Tanaka T, et al. Among authors: ikegawa s. Am J Hum Genet. 2003 Oct;73(4):812-22. doi: 10.1086/378593. Epub 2003 Sep 4. Am J Hum Genet. 2003. PMID: 12958705 Free PMC article.
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