메뉴 건너뛰기




Volumn 43, Issue 2, 2009, Pages 260-268

Computational analysis of human genome polymorphism

Author keywords

Bioinformatics; Human genome; Medical genetics; Single nucleotide polymorphism

Indexed keywords


EID: 65349103705     PISSN: 00268933     EISSN: 16083245     Source Type: Journal    
DOI: 10.1134/S0026893309020095     Document Type: Article
Times cited : (1)

References (90)
  • 3
    • 33751329250 scopus 로고    scopus 로고
    • Global variation in copy number in the human genome
    • R. Redon S. Ishikawa K.R. Fitch 2006 Global variation in copy number in the human genome Nature 444 444 454
    • (2006) Nature , vol.444 , pp. 444-454
    • Redon, R.1    Ishikawa, S.2    Fitch, K.R.3
  • 4
    • 24344505990 scopus 로고    scopus 로고
    • Microdeletions and microinsertions causing human genetic disease: Common mechanisms of mutagenesis and the role of local DNA sequence complexity
    • DOI 10.1002/humu.20212
    • E.V. Ball P.D. Stenson S.S. Abeysinghe 2005 Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity Hum. Mutat. 26 205 213 (Pubitemid 41254376)
    • (2005) Human Mutation , vol.26 , Issue.3 , pp. 205-213
    • Ball, E.V.1    Stenson, P.D.2    Abeysinghe, S.S.3    Krawczak, M.4    Cooper, D.N.5    Chuzhanova, N.A.6
  • 5
    • 0032997217 scopus 로고    scopus 로고
    • The essence of SNPs
    • DOI 10.1016/S0378-1119(99)00219-X, PII S037811199900219X
    • A.J. Brookes 1999 The essence of SNPs Gene. 234 177 186 (Pubitemid 29298180)
    • (1999) Gene , vol.234 , Issue.2 , pp. 177-186
    • Brookes, A.J.1
  • 6
    • 84984932946 scopus 로고    scopus 로고
    • Population genetics - Making sense out of sequence
    • DOI 10.1038/4482
    • A. Chakravarti 1999 Population genetics-making sense out of sequence Nature Genet. 21 56 60 (Pubitemid 29031494)
    • (1999) Nature Genetics , vol.21 , Issue.1 SUPPL. , pp. 56-60
    • Chakravarti, A.1
  • 7
    • 38749145596 scopus 로고    scopus 로고
    • Shifting paradigm of association studies: Value of rare single-nucleotide polymorphisms
    • I.P. Gorlov O.Y. Gorlova S.R. Sunyaev 2008 Shifting paradigm of association studies: Value of rare single-nucleotide polymorphisms Am. J. Hum. Genet. 82 100 112
    • (2008) Am. J. Hum. Genet. , vol.82 , pp. 100-112
    • Gorlov, I.P.1    Gorlova, O.Y.2    Sunyaev, S.R.3
  • 8
    • 0032429154 scopus 로고    scopus 로고
    • A DNA polymorphism discovery resource for research on human genetic variation
    • F.S. Collins L.D. Brooks A. Chakravarti 1998 A DNA polymorphism discovery resource for research on human genetic variation Genome Res. 8 1229 1231 (Pubitemid 29039095)
    • (1998) Genome Research , vol.8 , Issue.12 , pp. 1229-1231
    • Collins, F.S.1    Brooks, L.D.2    Chakravarti, A.3
  • 9
    • 31044442759 scopus 로고    scopus 로고
    • Pharmacogenetics in drug regulation: Promise, potential and pitfalls
    • R.R. Shah 2005 Pharmacogenetics in drug regulation: Promise, potential and pitfalls Philos Trans. R. Soc. Lond. B Biol. Sci. 360 1617 1638
    • (2005) Philos Trans. R. Soc. Lond. B Biol. Sci. , vol.360 , pp. 1617-1638
    • Shah, R.R.1
  • 10
    • 0035340508 scopus 로고    scopus 로고
    • Purifying selection on silent sites - A constraint from splicing regulation? [1]
    • DOI 10.1016/S0168-9525(01)02281-8
    • T.I. Orban E. Olah 2001 Purifying selection on silent sites - a constraint from splicing regulation? Trends Genet. 17 252 253 (Pubitemid 32378746)
    • (2001) Trends in Genetics , vol.17 , Issue.5 , pp. 252-253
    • Orban, T.1    Olah, E.2
  • 11
    • 43349086908 scopus 로고    scopus 로고
    • The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanisms
    • Chapter 1, Unit 1.13
    • Cooper D.N., Stenson P.D., Chuzhanova N.A. 2006. The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanisms. Curr. Protoc. Bioinformatics. Chapter 1, Unit 1.13.
    • (2006) Curr. Protoc. Bioinformatics.
    • Cooper, D.N.1    Stenson, P.D.2    Chuzhanova, N.A.3
  • 12
    • 0037373275 scopus 로고    scopus 로고
    • Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease
    • DOI 10.1038/ng1090
    • D. Botstein N. Risch 2003 Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease Nature Genet. 33 Suppl. 228 237 (Pubitemid 36278833)
    • (2003) Nature Genetics , vol.33 , Issue.SUPPL. , pp. 228-237
    • Botstein, D.1    Risch, N.2
  • 13
    • 7444227970 scopus 로고    scopus 로고
    • Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: Evolutionary evidence for differences in molecular effects
    • DOI 10.1073/pnas.0404380101
    • P.D. Thomas A. Kejariwal 2004 Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: Evolutionary evidence for differences in molecular effects Proc. Natl. Acad. Sci. USA. 101 15398 15403 (Pubitemid 39441553)
    • (2004) Proceedings of the National Academy of Sciences of the United States of America , vol.101 , Issue.43 , pp. 15398-15403
    • Thomas, P.D.1    Kejariwal, A.2
  • 17
    • 0348010697 scopus 로고    scopus 로고
    • Impact of selection, mutation rate and genetic drift on human genetic variation
    • DOI 10.1093/hmg/ddg359
    • S. Sunyaev F.A. Kondrashov P. Bork V. Ramensky 2003 Impact of selection, mutation rate and genetic drift on human genetic variation Hum. Mol. Genet. 12 3325 3330 (Pubitemid 37547908)
    • (2003) Human Molecular Genetics , vol.12 , Issue.24 , pp. 3325-3330
    • Sunyaev, S.1    Kondrashov, F.A.2    Bork, P.3    Ramensky, V.4
  • 18
    • 0026053092 scopus 로고
    • Low nucleotide diversity in man
    • W.H. Li L.A. Sadler 1991 Low nucleotide diversity in man Genetics 129 513 523
    • (1991) Genetics , vol.129 , pp. 513-523
    • Li, W.H.1    Sadler, L.A.2
  • 19
    • 0030021312 scopus 로고    scopus 로고
    • Increasing the information content of STS-based genome maps: Identifying polymorphisms in mapped STSs
    • DOI 10.1006/geno.1996.0019
    • P.Y. Kwok Q. Deng H. Zakeri 1996 Increasing the information content of STS-based genome maps: Identifying polymorphisms in mapped STSs Genomics 31 123 126 (Pubitemid 26044763)
    • (1996) Genomics , vol.31 , Issue.1 , pp. 123-126
    • Kwok, P.-Y.1    Deng, Q.2    Zakeri, H.3    Taylor, S.L.4    Nickerson, D.A.5
  • 21
    • 0036197833 scopus 로고    scopus 로고
    • Analysis of SNPs and other genomic variations using gel-based chips
    • DOI 10.1002/humu.10077
    • A. Kolchinsky A. Mirzabekov 2002 Analysis of SNPs and other genomic variations using gel-based chips Hum. Mutat. 19 343 360 (Pubitemid 34252316)
    • (2002) Human Mutation , vol.19 , Issue.4 , pp. 343-360
    • Kolchinsky, A.1    Mirzabekov, A.2
  • 22
    • 7244245762 scopus 로고    scopus 로고
    • Finishing the euchromatic sequence of the human genome
    • DOI 10.1038/nature03001
    • International Human Genome Sequencing Consortium. 2004 Finishing the euchromatic sequence of the human genome Nature 431 931 945 (Pubitemid 39434409)
    • (2004) Nature , vol.431 , Issue.7011 , pp. 931-945
    • Collins, F.S.1    Lander, E.S.2    Rogers, J.3    Waterson, R.H.4
  • 26
    • 39749139577 scopus 로고    scopus 로고
    • Proportionally more deleterious genetic variation in European than in African populations
    • K.E. Lohmueller A.R. Indap S. Schmidt 2008 Proportionally more deleterious genetic variation in European than in African populations Nature 451 994 997
    • (2008) Nature , vol.451 , pp. 994-997
    • Lohmueller, K.E.1    Indap, A.R.2    Schmidt, S.3
  • 27
    • 35348983887 scopus 로고    scopus 로고
    • A second generation human haplotype map of over 3.1 million SNPs
    • K.A. Frazer D.G. Ballinger D.R. Cox 2007 A second generation human haplotype map of over 3.1 million SNPs Nature 449 851 861
    • (2007) Nature , vol.449 , pp. 851-861
    • Frazer, K.A.1    Ballinger, D.G.2    Cox, D.R.3
  • 28
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome
    • E.S. Lander L.M. Linton B. Birren 2001 Initial sequencing and analysis of the human genome Nature 409 860 921
    • (2001) Nature , vol.409 , pp. 860-921
    • Lander, E.S.1    Linton, L.M.2    Birren, B.3
  • 29
    • 0035895505 scopus 로고    scopus 로고
    • The sequence of the human genome
    • J.C. Venter M.D. Adams E.W. Myers 2001 The sequence of the human genome Science 291 1304 1351
    • (2001) Science , vol.291 , pp. 1304-1351
    • Venter, J.C.1    Adams, M.D.2    Myers, E.W.3
  • 30
    • 42249087308 scopus 로고    scopus 로고
    • The complete genome of an individual by massively parallel DNA sequencing
    • D.A. Wheeler M. Srinivasan M. Egholm 2008 The complete genome of an individual by massively parallel DNA sequencing Nature 452 872 876
    • (2008) Nature , vol.452 , pp. 872-876
    • Wheeler, D.A.1    Srinivasan, M.2    Egholm, M.3
  • 32
    • 33750935988 scopus 로고    scopus 로고
    • Population genetics models of common diseases
    • A. Di Rienzo 2006 Population genetics models of common diseases Curr. Opin. Genet. Dev. 16 630 636
    • (2006) Curr. Opin. Genet. Dev. , vol.16 , pp. 630-636
    • Di Rienzo, A.1
  • 33
    • 6944252244 scopus 로고    scopus 로고
    • The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology
    • DOI 10.1038/ng1433
    • N. Freimer C. Sabatti 2004 The use of pedigree, sibpair and association studies of common diseases for genetic mapping and epidemiology Nature Genet. 36 1045 1051 (Pubitemid 41184462)
    • (2004) Nature Genetics , vol.36 , Issue.10 , pp. 1045-1051
    • Freimer, N.1    Sabatti, C.2
  • 34
    • 0035865078 scopus 로고    scopus 로고
    • Human disease genes
    • DOI 10.1038/35057050
    • G. Jimenez-Sanchez B. Childs D. Valle 2001 Human disease genes Nature 409 853 855 (Pubitemid 32165343)
    • (2001) Nature , vol.409 , Issue.6822 , pp. 853-855
    • Jimenez-Sanchez, G.1    Childs, B.2    Valle, D.3
  • 35
    • 0033786787 scopus 로고    scopus 로고
    • Linkage disequilibrium and the search for complex disease genes
    • L.B. Jorde 2000 Linkage disequilibrium and the search for complex disease genes Genome Res. 10 1435 1444
    • (2000) Genome Res. , vol.10 , pp. 1435-1444
    • Jorde, L.B.1
  • 36
    • 3442879338 scopus 로고    scopus 로고
    • Assessing the function of genetic variants in candidate gene association studies
    • DOI 10.1038/nrg1403
    • T.R. Rebbeck M. Spitz X. Wu 2004 Assessing the function of genetic variants in candidate gene association studies Nature Rev. Genet. 5 589 597 (Pubitemid 39005753)
    • (2004) Nature Reviews Genetics , vol.5 , Issue.8 , pp. 589-597
    • Rebbeck, T.R.1    Spitz, M.2    Wu, X.3
  • 37
    • 13144265739 scopus 로고    scopus 로고
    • Genome-wide association studies: Theoretical and practical concerns
    • DOI 10.1038/nrg1522
    • W.Y. Wang B.J. Barratt D.G. Clayton J.A. Todd 2005 Genome-wide association studies: Theoretical and practical concerns Nature Rev. Genet. 6 109 118 (Pubitemid 40179533)
    • (2005) Nature Reviews Genetics , vol.6 , Issue.2 , pp. 109-118
    • Wang, W.Y.S.1    Barratt, B.J.2    Clayton, D.G.3    Todd, J.A.4
  • 41
    • 13144306071 scopus 로고    scopus 로고
    • Genome-wide association studies for common diseases and complex traits
    • DOI 10.1038/nrg1521
    • J.N. Hirschhorn M.J. Daly 2005 Genome-wide association studies for common diseases and complex traits Nature Rev. Genet. 6 95 108 (Pubitemid 40179532)
    • (2005) Nature Reviews Genetics , vol.6 , Issue.2 , pp. 95-108
    • Hirschhorn, J.N.1    Daly, M.J.2
  • 42
    • 33646355158 scopus 로고    scopus 로고
    • Selection of SNP subsets for association studies in candidate genes: Comparison of the power of different strategies to detect single disease susceptibility locus effects
    • E. Cousin J.F. Deleuze E. Genin 2006 Selection of SNP subsets for association studies in candidate genes: Comparison of the power of different strategies to detect single disease susceptibility locus effects BMC Genet. 7 20
    • (2006) BMC Genet. , vol.7 , pp. 20
    • Cousin, E.1    Deleuze, J.F.2    Genin, E.3
  • 43
    • 33748309136 scopus 로고    scopus 로고
    • Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration
    • DOI 10.1038/ng1873, PII NG1873
    • J. Maller S. George S. Purcell 2006 Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration Nature Genet. 38 1055 1059 (Pubitemid 44325932)
    • (2006) Nature Genetics , vol.38 , Issue.9 , pp. 1055-1059
    • Maller, J.1    George, S.2    Purcell, S.3    Fagerness, J.4    Altshuler, D.5    Daly, M.J.6    Seddon, J.M.7
  • 47
    • 0029741063 scopus 로고    scopus 로고
    • The future of genetic studies of complex human diseases
    • N. Risch K. Merikangas 1996 The future of genetic studies of complex human diseases Science 273 1516 1517 (Pubitemid 26301653)
    • (1996) Science , vol.273 , Issue.5281 , pp. 1516-1517
    • Risch, N.1    Merikangas, K.2
  • 48
    • 0036799545 scopus 로고    scopus 로고
    • The allelic architecture of human disease genes: Common disease - Common variant... or not?
    • J.K. Pritchard N.J. Cox 2002 The allelic architecture of human disease genes: Common disease-common variant...or not? Hum. Mol. Genet. 11 2417 2423 (Pubitemid 35174705)
    • (2002) Human Molecular Genetics , vol.11 , Issue.20 , pp. 2417-2423
    • Pritchard, J.K.1    Cox, N.J.2
  • 49
    • 0037312921 scopus 로고    scopus 로고
    • Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease
    • DOI 10.1038/ng1071
    • K.E. Lohmueller C.L. Pearce M. Pike 2003 Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease Nature Genet. 33 177 182 (Pubitemid 36177070)
    • (2003) Nature Genetics , vol.33 , Issue.2 , pp. 177-182
    • Lohmueller, K.E.1    Pearce, C.L.2    Pike, M.3    Lander, E.S.4    Hirschhorn, J.N.5
  • 51
    • 0033624575 scopus 로고    scopus 로고
    • The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
    • D. Altshuler J.N. Hirschhorn M. Klannemark 2000 The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes Nature Genet. 26 76 80
    • (2000) Nature Genet. , vol.26 , pp. 76-80
    • Altshuler, D.1    Hirschhorn, J.N.2    Klannemark, M.3
  • 54
    • 0034969437 scopus 로고    scopus 로고
    • Are rare variants responsible for susceptibility to complex diseases?
    • DOI 10.1086/321272
    • J.K. Pritchard 2001 Are rare variants responsible for susceptibility to complex diseases? Am. J. Hum. Genet. 69 124 137 (Pubitemid 32614025)
    • (2001) American Journal of Human Genetics , vol.69 , Issue.1 , pp. 124-137
    • Pritchard, J.K.1
  • 55
    • 34147116715 scopus 로고    scopus 로고
    • Most rare missense alleles are deleterious in humans: Implications for complex disease and association studies
    • DOI 10.1086/513473
    • G.V. Kryukov L.A. Pennacchio S.R. Sunyaev 2007 Most rare missense alleles are deleterious in humans: implications for complex disease and association studies Am. J. Hum. Genet. 80 727 739 (Pubitemid 46564409)
    • (2007) American Journal of Human Genetics , vol.80 , Issue.4 , pp. 727-739
    • Kryukov, G.V.1    Pennacchio, L.A.2    Sunyaev, S.R.3
  • 57
  • 58
    • 14644388859 scopus 로고    scopus 로고
    • Haplotypes produced from rare variants in the promoter and coding regions of angiotensinogen contribute to variation in angiotensinogen levels
    • DOI 10.1093/hmg/ddi060
    • X. Zhu L. Fejerman A. Luke 2005 Haplotypes produced from rare variants in the promoter and coding regions of angiotensinogen contribute to variation in angiotensinogen levels Hum. Mol. Genet. 14 639 643 (Pubitemid 40309589)
    • (2005) Human Molecular Genetics , vol.14 , Issue.5 , pp. 639-643
    • Zhu, X.1    Fejerman, L.2    Luke, A.3    Adeyemo, A.4    Cooper, R.S.5
  • 60
    • 17144378972 scopus 로고    scopus 로고
    • CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): A meta-analysis
    • DOI 10.1007/s00439-004-1244-1
    • Y.H. Lee J.B. Harley S.K. Nath 2005 CTLA-4 polymorphisms and systemic lupus erythematosus SLE.: a meta-analysis Hum. Genet. 116 361 367 (Pubitemid 40521112)
    • (2005) Human Genetics , vol.116 , Issue.5 , pp. 361-367
    • Lee, Y.H.1    Harley, J.B.2    Nath, S.K.3
  • 62
    • 0036713510 scopus 로고    scopus 로고
    • Human nonsynonymous SNPs: Server and survey
    • V. Ramensky P. Bork S. Sunyaev 2002 Human nonsynonymous SNPs: server and survey Nucleic Acids Res. 30 3894 3900
    • (2002) Nucleic Acids Res. , vol.30 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 63
    • 0034191958 scopus 로고    scopus 로고
    • Towards a structural basis of human non-synonymous single nucleotide polymorphisms
    • DOI 10.1016/S0168-9525(00)01988-0, PII S0168952500019880
    • S. Sunyaev V. Ramensky P. Bork 2000 Towards a structural basis of human non-synonymous single nucleotide polymorphisms Trends Genet. 16 198 200 (Pubitemid 30216541)
    • (2000) Trends in Genetics , vol.16 , Issue.5 , pp. 198-200
    • Sunyaev, S.1    Ramensky, V.2    Bork, P.3
  • 64
    • 0035065485 scopus 로고    scopus 로고
    • SNPs, protein structure, and disease
    • DOI 10.1002/humu.22
    • Z. Wang J. Moult 2001 SNPs, protein structure, and disease Hum. Mutat. 17 263 270 (Pubitemid 32268400)
    • (2001) Human Mutation , vol.17 , Issue.4 , pp. 263-270
    • Wang, Z.1    Moult, J.2
  • 65
    • 0035937259 scopus 로고    scopus 로고
    • Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: Structure-based assessment of amino acid variation
    • DOI 10.1006/jmbi.2001.4510
    • D. Chasman R.M. Adams 2001 Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: Structure-based assessment of amino acid variation J. Mol. Biol. 307 683 706 (Pubitemid 33027685)
    • (2001) Journal of Molecular Biology , vol.307 , Issue.2 , pp. 683-706
    • Chasman, D.1    Adams, R.M.2
  • 68
    • 0036387236 scopus 로고    scopus 로고
    • Evaluation of structural and evolutionary contributions to deleterious mutation prediction
    • C.T. Saunders D. Baker 2002 Evaluation of structural and evolutionary contributions to deleterious mutation prediction J. Mol. Biol. 322 891 901
    • (2002) J. Mol. Biol. , vol.322 , pp. 891-901
    • Saunders, C.T.1    Baker, D.2
  • 69
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • DOI 10.1093/nar/gkg509
    • P.C. Ng S. Henikoff 2003 SIFT: Predicting amino acid changes that affect protein function Nucleic Acids Res. 31 3812 3814 (Pubitemid 37442253)
    • (2003) Nucleic Acids Research , vol.31 , Issue.13 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 71
    • 33645764714 scopus 로고    scopus 로고
    • SNPs3D: Candidate gene and SNP selection for association studies
    • P. Yue E. Melamud J. Moult 2006 SNPs3D: Candidate gene and SNP selection for association studies BMC Bioinformatics 7 166
    • (2006) BMC Bioinformatics , vol.7 , pp. 166
    • Yue, P.1    Melamud, E.2    Moult, J.3
  • 72
    • 34547765932 scopus 로고    scopus 로고
    • Sequence-based prioritization of nonsynonymous single-nucleotide polymorphisms for the study of disease mutations
    • DOI 10.1086/519747
    • R. Jiang H. Yang L. Zhou 2007 Sequence-based prioritization of nonsynonymous single-nucleotide polymorphisms for the study of disease mutations Am. J. Hum. Genet. 81 346 360 (Pubitemid 47236081)
    • (2007) American Journal of Human Genetics , vol.81 , Issue.2 , pp. 346-360
    • Jiang, R.1    Yang, H.2    Zhou, L.3    Kuo, C.-C.J.4    Sun, F.5    Chen, T.6
  • 73
    • 33751013750 scopus 로고    scopus 로고
    • Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information
    • E. Capriotti R. Calabrese R. Casadio 2006 Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information Bioinformatics 22 2729 2734
    • (2006) Bioinformatics , vol.22 , pp. 2729-2734
    • Capriotti, E.1    Calabrese, R.2    Casadio, R.3
  • 74
    • 23144437332 scopus 로고    scopus 로고
    • NsSNPAnalyzer: Identifying disease-associated nonsynonymous single nucleotide polymorphisms
    • DOI 10.1093/nar/gki372
    • L. Bao M. Zhou Y. Cui 2005 nsSNPAnalyzer: Identifying disease-associated nonsynonymous single nucleotide polymorphisms Nucleic Acids Res. 33 W480 W482 (Pubitemid 44529966)
    • (2005) Nucleic Acids Research , vol.33 , Issue.WEB. SERV. ISS.
    • Bao, L.1    Zhou, M.2    Cui, Y.3
  • 75
    • 33748672451 scopus 로고    scopus 로고
    • SNPeffect v2.0: A new step in investigating the molecular phenotypic effects of human non-synonymous SNPs
    • DOI 10.1093/bioinformatics/btl348
    • J. Reumers S. Maurer-Stroh J. Schymkowitz F. Rousseau 2006 SNPeffect v. 2.0: A new step in investigating the molecular phenotypic effects of human nonsynonymous SNPs Bioinformatics 22 2183 2185 (Pubitemid 44390919)
    • (2006) Bioinformatics , vol.22 , Issue.17 , pp. 2183-2185
    • Reumers, J.1    Maurer-Stroh, S.2    Schymkowitz, J.3    Rousseau, F.4
  • 76
    • 17244367767 scopus 로고    scopus 로고
    • Bioinformatics approaches and resources for single nucleotide polymorphism functional analysis
    • DOI 10.1093/bib/6.1.44
    • S. Mooney 2005 Bioinformatics approaches and resources for single nucleotide polymorphism functional analysis Brief. Bioinform. 6 44 56 (Pubitemid 40528579)
    • (2005) Briefings in Bioinformatics , vol.6 , Issue.1 , pp. 44-56
    • Mooney, S.1
  • 77
    • 33750353461 scopus 로고    scopus 로고
    • Predicting the effects of amino acid substitutions on protein function
    • DOI 10.1146/annurev.genom.7.080505.115630
    • P.C. Ng S. Henikoff 2006 Predicting the effects of amino acid substitutions on protein function Annu. Rev. Genomics Hum. Genet. 7 61 80 (Pubitemid 44627922)
    • (2006) Annual Review of Genomics and Human Genetics , vol.7 , pp. 61-80
    • Ng, P.C.1    Henikoff, S.2
  • 79
    • 7044237350 scopus 로고    scopus 로고
    • In silico prediction of the deleterious effect of a mutation: Proceed with caution in clinical genetics
    • DOI 10.1373/clinchem.2004.036053
    • D. Tchernitchko M. Goossens H. Wajcman 2004 In silico prediction of the deleterious effect of a mutation: Proceed with caution in clinical genetics Clin. Chem. 50 1974 1978 (Pubitemid 39425832)
    • (2004) Clinical Chemistry , vol.50 , Issue.11 , pp. 1974-1978
    • Tchernitchko, D.1    Goossens, M.2    Wajcman, H.3
  • 81
    • 7444235907 scopus 로고    scopus 로고
    • Cis-acting regulatory variation in the human genome
    • DOI 10.1126/science.1101659
    • T. Pastinen T.J. Hudson 2004 Cis-acting regulatory variation in the human genome Science 306 647 650 (Pubitemid 39440905)
    • (2004) Science , vol.306 , Issue.5696 , pp. 647-650
    • Pastinen, T.1    Hudson, T.J.2
  • 82
    • 5444256188 scopus 로고    scopus 로고
    • Allele-specific gene expression differences in humans
    • DOI 10.1093/hmg/ddh227
    • P.R. Buckland 2004 Allele-specific gene expression differences in humans Hum. Mol. Genet. 13Spec. 2 R255 R260 (Pubitemid 39359910)
    • (2004) Human Molecular Genetics , vol.13 , Issue.REV. ISS. 2
    • Buckland, P.R.1
  • 84
    • 33751520430 scopus 로고    scopus 로고
    • Natural selection on human microRNA binding sites inferred from SNP data
    • K. Chen N. Rajewsky 2006 Natural selection on human microRNA binding sites inferred from SNP data Nature Genet. 38 1452 1456
    • (2006) Nature Genet. , vol.38 , pp. 1452-1456
    • Chen, K.1    Rajewsky, N.2
  • 85
    • 57749107417 scopus 로고    scopus 로고
    • In silico comparison of simple sequence repeats in high nucleotides-rich genomes of microorganism
    • DOI 10.3923/pjbs.2008.2372.2381
    • M.C. Andersen P.G. Engstrom S. Lithwick 2008 In silico detection of sequence variations modifying transcriptional regulation PLoS Comput. Biol. 4 e5 (Pubitemid 352845673)
    • (2008) Pakistan Journal of Biological Sciences , vol.11 , Issue.20 , pp. 2372-2381
    • Rahim, F.1
  • 86
    • 49549085766 scopus 로고    scopus 로고
    • Predicting functional regulatory polymorphisms
    • A. Torkamani N.J. Schork 2008 Predicting functional regulatory polymorphisms Bioinformatics 24 1787 1792
    • (2008) Bioinformatics , vol.24 , pp. 1787-1792
    • Torkamani, A.1    Schork, N.J.2
  • 88
    • 0037246683 scopus 로고    scopus 로고
    • RSNP-Guide, a database system for analysis of transcription factor binding to DNA with variations: Application to genome annotation
    • J.V. Ponomarenko T.I. Merkulova G.V. Orlova 2003 rSNP-Guide, a database system for analysis of transcription factor binding to DNA with variations: Application to genome annotation Nucleic Acids Res. 31 118 121
    • (2003) Nucleic Acids Res. , vol.31 , pp. 118-121
    • Ponomarenko, J.V.1    Merkulova, T.I.2    Orlova, G.V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.