참고문헌
- Cooper GM, Mefford HC. Detection of copy number variation using SNP genotyping. Methods Mol Biol 2011;767:243-252. https://doi.org/10.1007/978-1-61779-201-4_18
- Wong KK, deLeeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, Horsman DE, et al. A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 2007;80:91-104. https://doi.org/10.1086/510560
- Claw KG, Tito RY, Stone AC, Verrelli BC. Haplotype structure and divergence at human and chimpanzee serotonin transporter and receptor genes: implications for behavioral disorder association analyses. Mol Biol Evol 2010;27:1518-1529. https://doi.org/10.1093/molbev/msq030
- Cordell HJ, Darlay R, Charoen P, Stewart A, Gullett AM, Lambert HJ, et al. Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux. J Am Soc Nephrol 2010;21:113-123. https://doi.org/10.1681/ASN.2009060624
- Moen T, Hayes B, Nilsen F, Delghandi M, Fjalestad KT, Fevolden SE, et al. Identification and characterisation of novel SNP markers in Atlantic cod: evidence for directional selection. BMC Genet 2008;9:18.
- Latter BD. Selection in finite populations with multiple alleles. 3. Genetic divergence with centripetal selection and mutation. Genetics 1972;70:475-490.
- Hong H, Xu L, Liu J, Jones WD, Su Z, Ning B, et al. Technical reproducibility of genotyping SNP arrays used in genome- wide association studies. PLoS One 2012;7:e44483. https://doi.org/10.1371/journal.pone.0044483
- McCarroll SA, Altshuler DM. Copy-number variation and association studies of human disease. Nat Genet 2007;39(7 Suppl):S37-S42. https://doi.org/10.1038/ng2080
- Kehrer-Sawatzki H, Cooper DN. Copy number variation and disease: preface. Cytogenet Genome Res 2008;123:5-6. https://doi.org/10.1159/000184686
- Schrider DR, Hahn MW. Gene copy-number polymorphism in nature. Proc Biol Sci 2010;277:3213-3221. https://doi.org/10.1098/rspb.2010.1180
- HUGO Pan-Asian SNP Consortium, Abdulla MA, Ahmed I, Assawamakin A, Bhak J, Brahmachari SK, et al. Mapping human genetic diversity in Asia. Science 2009;326:1541-1545. https://doi.org/10.1126/science.1177074
- Ngamphiw C, Assawamakin A, Xu S, Shaw PJ, Yang JO, Ghang H, et al. PanSNPdb: the Pan-Asian SNP genotyping database. PLoS One 2011;6:e21451. https://doi.org/10.1371/journal.pone.0021451
- Scheet P, Stephens M. A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am J Hum Genet 2006;78:629-644. https://doi.org/10.1086/502802
- Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, et al. Large-scale copy number polymorphism in the human genome. Science 2004;305:525-528. https://doi.org/10.1126/science.1098918
- Park J, Hwang S, Lee YS, Kim SC, Lee D. SNP@Ethnos: a database of ethnically variant single-nucleotide polymorphisms. Nucleic Acids Res 2007;35:D711-D715. https://doi.org/10.1093/nar/gkl962
- Tibshirani R, Hastie T, Narasimhan B, Chu G. Diagnosis of multiple cancer types by shrunken centroids of gene expression. Proc Natl Acad Sci U S A 2002;99:6567-6572. https://doi.org/10.1073/pnas.082099299
- Rusk N. Expanding HapMap. Nat Methods 2010;7:780-781. https://doi.org/10.1038/nmeth1010-780a
- Maglott D, Ostell J, Pruitt KD, Tatusova T. Entrez Gene: gene-centered information at NCBI. Nucleic Acids Res 2011; 39:D52-D57. https://doi.org/10.1093/nar/gkq1237
- Kantola AK, Ryynänen MJ, Lhota F, Keski-Oja J, Koli K. Independent regulation of short and long forms of latent TGF-beta binding protein (LTBP)-4 in cultured fibroblasts and human tissues. J Cell Physiol 2010;223:727-736.
- Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 2009;459:569-573. https://doi.org/10.1038/nature07953