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Copy number を整数値でタイピングすることにアッセイ技術上の問題が残るなど、関連検定以前の問題も残されてはいるが、ひとたび、コピーナンバーが整数で得られれば、コピーナンバー多型が2アレルであるときには、SNPとほぼ同様の対応が可能であり、確かに多くのコピーナンバーは2アレルであるようだ。ただし、有名どころのCNVにも2より多いアレルのそれがあるように、3アレル以上のCNVに対する対応も必要である。
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One-way ANOVA
18. Stranger, B.E. et al. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 315, 848-53 (2007).
19. McKinney, C. et al. Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis. Ann Rheum Dis (2007).