Vol. 32, Special Issue, S 51 S 64 (2011) 1. Web Site 1 gene chromosome Arthur, 2002;, 2002;, 2004; Web Site 2 Knudesen, 20
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1 Vol. 32, Special Issue, S 51 S 64 (2011) mmatsuura@jfcr.or.jp 1. Web Site 1 gene chromosome Arthur, 2002;, 2002;, 2004; Web Site 2 Knudesen, 2002;, 2005, 2000a, 2004;, 2004, 2004, 2005a,b; Ushijima et al., 2006
2 S52 omics 2. DNA Watson and Crick (1953) DNA 2 DNA A T G C % RNA mrna Brown, Dayhoff 1983 Doolittle et al. (1983) v-sis Doolittle % International Human Genome Sequencing Consortium, 2004 NCBI UCSC
3 S Mount, 2001;, 2006a DNA 1 A B A B FASTA 1990 BLAST Basic Local Alignment Search Tool Altschul et al., Hidden Markov Model HMM Durbin et al., 1998 HMM 3 3 HMM
4 S54 BLAST E-value 2 E-value, 2002 Setubal and Meidanis, omics genomics mrna transcriptomics proteomics -omics omics mrna, SNP: single nucleotide polymorphism, 2000; Rebbeck, mrna Kohane et al., 2003;, , 2004; Ushijima et al., 2007 SNP 1000 SNP SNP SNP SNP SNP SNP 30 DNA SNP Web Site 3 HapMap 2005
5 S55 Phase I The International HapMap Consortium, SNP Web Site 4 4. SNP SNP 2 SNP SNP SNP JSNP, Web Site 5 SNP 10 SNP SNP SNP 100 SNP SNP association study, case-control study 2 SNP G A SNP GG, GA AA 3 1 SNP 2 SNP SNP 3
6 S GG AA GA SNP SNP HW HW Falconer and Mackay, 1996 SNP G A p q HW GG, GA, AA p 2,2pq, q 2 HW 2 HW SNP, 2001 SNP SNP 4.1 SNP SNP SNP 1 SNP Daly et al., 2001 SNP k SNP 2 k 90 % 2 6 Stram et al., SNP3 3 T 1 2 SNP3 C 1 1 SNP3 SNP1 G 3
7 S57 1. SNP 2 G SNP2 3 A 1 A SNP1 SNP2 1 1 SNP1 SNP2 SNP3 SNP1, SNP2 SNP3 G, A, T 3 2 SNP SNP SNP 2 SNP 2 SNP 2 SNP 2 SNP SNP SNP 2 SNP
8 S58, SNP SNP Anderson and Novembre, 2003 Gabriel et al. (2002) SNP SNP 2 SNP Fujisawa et al. (2007) 2 2 SNP SNP SNP p 1 2 SNP SNP 2 SNP SNP 4.3 SNP 2 SNPAlyze
9 S59 Ohmori et al., 2003 Haplotyper Niu et al., 2002 Stram et al. (2003) CYP SNP Tzeng , 2006b Tzeng p 71 2 SNP p %, 24 %, 17 % 17 % k y =1 y =0 2 y =0,1 y =1 P (y =1)=1/{ 1+exp( b 0 b 1x 1 b 2x 2 b k x k ) } b i 0 i k i x i i i 1 0 i j x i =1, x j =1 i x i =2 x 0 i
10 S60 exp(b i) 2 SNP SNP SNP m (m 1) SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP Web Site SNP, 2001 Common disease common variant CDCV rare variant SNP p, 2006 p p
11 S61 Altschul, S.F., Gish, W., Miller, W., Myers, E.W. and Lipman, D.J. (1990). Basic local alignment search tool. Journal of Molecular Biology, 215 (3), Anderson, E.C. and Novembre, J. (2003). Finding haplotype block boundaries by using the minimum-description-length principle. American Journal of Human Genetics, 73, Arthur, M.L. (2002). Introduction to Bioinformatics. Oxford University Press. (, (2003).. ) Brown, T.A. (1999). Genome. BIOS Scientific Publisher Ltd. ( (2000).. ) Daly, M.J., Rioux, J.D., Schaffner, S.F. et al. (2001). High-resolution haplotype structure in the human genome. Nature Genetics, 29, Doolittle, R.F., Hunkapiller, M.W., Hood, L.E. et al. (1983). Simian sarcoma virus onc gene, v-sis, is derived from the gene (or genes) encoding a platelet-derived growth factor. Science, 221, Durbin, R., Eddy, S.R., Krogh, A. and Mitchison, G. (1998). Biological Sequence Analysis: Probabilistic Models of Proteins and Nucleic Acids. Cambridge University Press. (,, (2001).. ) (2005).., 5(4), (2002)... Falconer, D.S. and Mackay, T.F.C. (1996). Quantitative Genetics. Prentice Hall.
12 S62 Fujisawa, H., Isomura, M., Eguchi, S., Ushijima, M., Miyata, S., Miki, Y. and Matsuura, M. (2007). Identifying haplotype block structure using an ancestor-derived model. Journal of Human Genetics, 52(9), Gabriel, S.B., Schaffner, S.F., Nguyen, H. et al. (2002). The structure of haplotype blocks in the human genome. Science, 296, (2007).., 37, (2001)..., (2005)... Kohane, I.S., Kho, A.T. and Butte, A.J. (2003). Microarrays for integrative genomics. Springer. ( (2004).. ) Kundsen, S. (2002). A Biologist s guide to analysis of DNA microaary data. John Wiley & Sons, Inc. (,,. (2002).!!DNA. ) (2000a). SNP.. (2000b). SNP.. (2004).., 22(14), ,, (2004).., 25(2), ,, (2005a).., 5(2), ,, (2005b).., 41, (2006a).. :, 75 78,. (2006b).., 46(3), ,, (2006).. BioTherapy, l20(3), ,, (2006). OMICS., 44(3),
13 S63 Mount, D.W. (2001). Bioinformatics: Sequence and Genome Analysis. Cold Spring Harbor Laboratory Press. ( (2003).. ) Niu, T., Qin, Z.S., Xu, X. et al. (2002). Bayesian haplotype inference for multiple linked singlenucleotide polymorphisms. American Journal of Human Genetics, 70, Ohmori, H., Makita, Y., Funamizu, M. et al. (2003). Haplotype analysis of the human collection placenta 1 (hcl-p1) gene. Journal of Human Genetics, 48, Rebbeck, T.R., Ambrosone, C.B., Bell, D.A. et al. (2004). SNPs, haplotypes, and cancer: applications in molecular epidemiology. Cancer Epidemiology, Biomarkers & Prevention, 13, Setubal, J.C. and Meidanis, J. (1997). Introduction to computational molecular biology. Brooks/Cole Publishing Co. ( (2001).. ) (2004)... The International HapMap Consortium. (2005). A haplotype map of the human genome. Nature, 437, Tzeng, J.Y. (2005). Evolutionary-based grouping of haplotypes in association analysis. Genetic Epidemiology, 28, (2002)... Stram, D.O., Pearce, C.L., Bretsky, P. et al. (2003). Modeling and E-M estimation of haplotypespecific relative risks from genotype data for a case-control study of unrelated individuals. Human Heredity, 55, Ushijima, M., Miyata, S., Eguchi, S., Kawakita, M., Yoshimoto, M., Iwase, T., Akiyama, F., Sakamoto, G., Nagasaki, K., Miki, Y., Noda, T., Hoshikawa, Y. and Matsuura, M. (2007). Common peak approach using mass spectrometry data sets for predicting the effects of anticancer drugs on breast cancer. Cancer Informatics, 3, Watson, J.D. and Crick, F.H.C. (1953). A structure for deoxyribose nucleic acid. Nature, 171, Web Site 1) 2) 3) 4)
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