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Volumn 98, Issue 4, 2011, Pages 233-241

Annotating individual human genomes

Author keywords

Computer modeling; Functional analysis; Genomic variation; Sequencing

Indexed keywords

BIOPHYSICS; CLASSIFIER; COMPUTER MODEL; DISEASE PREDISPOSITION; DNA SEQUENCE; FUNCTIONAL GENOMICS; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC DATABASE; GENETIC SELECTION; GENETIC VARIABILITY; HUMAN; HUMAN GENOME; MOLECULAR GENETICS; PHENOTYPE; PHYLOGENY; POPULATION GENETICS; PREDICTION; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; REVIEW; RISK ASSESSMENT; SOMATIC CELL; TUMOR GENE;

EID: 80053314976     PISSN: 08887543     EISSN: 10898646     Source Type: Journal    
DOI: 10.1016/j.ygeno.2011.07.006     Document Type: Review
Times cited : (17)

References (111)
  • 1
    • 0028090414 scopus 로고
    • Genetic dissection of complex traits
    • [Review. Erratum in: Science 1994 Oct 21;266(5184):353. PMID:8091226]
    • Lander E.S., Schork N.J. Genetic dissection of complex traits. Science Sep 30 1994, 265(5181):2037-2048. [Review. Erratum in: Science 1994 Oct 21;266(5184):353. PMID:8091226].
    • (1994) Science , vol.265 , Issue.5181 , pp. 2037-2048
    • Lander, E.S.1    Schork, N.J.2
  • 2
  • 3
    • 43049146524 scopus 로고    scopus 로고
    • A HapMap harvest of insights into the genetics of common disease
    • [Review. PMID:18451988]
    • Manolio T.A., Brooks L.D., Collins F.S. A HapMap harvest of insights into the genetics of common disease. J. Clin. Invest. May 2008, 118(5):1590-1605. [Review. PMID:18451988].
    • (2008) J. Clin. Invest. , vol.118 , Issue.5 , pp. 1590-1605
    • Manolio, T.A.1    Brooks, L.D.2    Collins, F.S.3
  • 5
    • 77958102016 scopus 로고    scopus 로고
    • Statistical analysis strategies for association studies involving rare variants
    • [Epub 2010 Oct 13. Review. PMID:20940738]
    • Bansal V., Libiger O., Torkamani A., Schork N.J. Statistical analysis strategies for association studies involving rare variants. Nat. Rev. Genet. Nov 2010, 11(11):773-785. [Epub 2010 Oct 13. Review. PMID:20940738].
    • (2010) Nat. Rev. Genet. , vol.11 , Issue.11 , pp. 773-785
    • Bansal, V.1    Libiger, O.2    Torkamani, A.3    Schork, N.J.4
  • 6
    • 55549140861 scopus 로고    scopus 로고
    • Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance
    • IARC Unclassified Genetic Variants Working Group, [PMID:18951447]
    • Hofstra R.M., Spurdle A.B., Eccles D., Foulkes W.D., de Wind N., Hoogerbrugge N., Hogervorst F.B. Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance. Hum. Mutat. Nov 2008, 29(11):1292-1303. IARC Unclassified Genetic Variants Working Group, [PMID:18951447].
    • (2008) Hum. Mutat. , vol.29 , Issue.11 , pp. 1292-1303
    • Hofstra, R.M.1    Spurdle, A.B.2    Eccles, D.3    Foulkes, W.D.4    de Wind, N.5    Hoogerbrugge, N.6    Hogervorst, F.B.7
  • 7
    • 79959524146 scopus 로고    scopus 로고
    • A haplotype map of the human genome
    • International HapMap Consortium.
    • International HapMap Consortium A haplotype map of the human genome. Nature Oct 27 2005, 437(7063):1299-1320.
    • (2005) Nature , vol.437 , Issue.7063 , pp. 1299-1320
  • 8
    • 84975742565 scopus 로고    scopus 로고
    • The 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing, Nature
    • The 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing, Nature 467 (2005) 1061-1073.
    • (2005) , vol.467 , pp. 1061-1073
  • 9
    • 54549108740 scopus 로고    scopus 로고
    • Comprehensive genomic characterization defines human glioblastoma genes and core pathways
    • The Cancer Genome Atlas Research Network.
    • The Cancer Genome Atlas Research Network Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature 2008, 455(7216):1061-1068.
    • (2008) Nature , vol.455 , Issue.7216 , pp. 1061-1068
  • 11
    • 79952186533 scopus 로고    scopus 로고
    • Global analysis of disease-related DNA sequence variation in 10 healthy individuals: implications for whole genome-based clinical diagnostics
    • Moore B., Hu H., Singleton M., Reese M.G., De La Vega F.M., Yandell M. Global analysis of disease-related DNA sequence variation in 10 healthy individuals: implications for whole genome-based clinical diagnostics. Genet. Med. Mar 2011, 13(3):210-217.
    • (2011) Genet. Med. , vol.13 , Issue.3 , pp. 210-217
    • Moore, B.1    Hu, H.2    Singleton, M.3    Reese, M.G.4    De La Vega, F.M.5    Yandell, M.6
  • 13
    • 78651377251 scopus 로고    scopus 로고
    • The UCSC genome browser: what every molecular biologist should know
    • Chapter 19:Unit19.9. Review. PMID: 19816931
    • Mangan M.E., Williams J.M., Kuhn R.M., Lathe W.C. The UCSC genome browser: what every molecular biologist should know. Curr. Protoc. Mol. Biol. Oct 2009, Chapter 19:Unit19.9. Review. PMID: 19816931.
    • (2009) Curr. Protoc. Mol. Biol.
    • Mangan, M.E.1    Williams, J.M.2    Kuhn, R.M.3    Lathe, W.C.4
  • 14
    • 46149091991 scopus 로고    scopus 로고
    • UCSC genome browser: deep support for molecular biomedical research
    • [Review. PMID:18606360]
    • Mangan M.E., Williams J.M., Lathe S.M., Karolchik D., Lathe W.C. UCSC genome browser: deep support for molecular biomedical research. Biotechnol. Annu. Rev. 2008, 14:63-108. [Review. PMID:18606360].
    • (2008) Biotechnol. Annu. Rev. , vol.14 , pp. 63-108
    • Mangan, M.E.1    Williams, J.M.2    Lathe, S.M.3    Karolchik, D.4    Lathe, W.C.5
  • 16
    • 79955646758 scopus 로고    scopus 로고
    • Identification of causal sequence variants of disease in the next generation sequencing era
    • [Review. PMID:21204025]
    • Kingsley C.B. Identification of causal sequence variants of disease in the next generation sequencing era. Methods Mol. Biol. 2011, 700:37-46. [Review. PMID:21204025].
    • (2011) Methods Mol. Biol. , vol.700 , pp. 37-46
    • Kingsley, C.B.1
  • 17
    • 77954762633 scopus 로고    scopus 로고
    • Annotating non-coding regions of the genome
    • [Epub 2010 Jul 13. Review. PMID:20628352]
    • Alexander R.P., Fang G., Rozowsky J., Snyder M., Gerstein M.B. Annotating non-coding regions of the genome. Nat. Rev. Genet. Aug 2010, 11(8):559-571. [Epub 2010 Jul 13. Review. PMID:20628352].
    • (2010) Nat. Rev. Genet. , vol.11 , Issue.8 , pp. 559-571
    • Alexander, R.P.1    Fang, G.2    Rozowsky, J.3    Snyder, M.4    Gerstein, M.B.5
  • 18
    • 79955550445 scopus 로고    scopus 로고
    • A User's Guide to the Encyclopedia of DNA Elements (ENCODE)
    • The ENCODE Project Consortium, [Epub 2011 Apr 19. PMID:21526222]
    • The ENCODE Project Consortium A User's Guide to the Encyclopedia of DNA Elements (ENCODE). PLoS Biol. Apr 2011, 9(4):e1001046. [Epub 2011 Apr 19. PMID:21526222].
    • (2011) PLoS Biol. , vol.9 , Issue.4
  • 19
    • 34447328395 scopus 로고    scopus 로고
    • Mammalian evolution and biomedicine: new views from phylogeny
    • [Review. Erratum in: Biol Rev Camb Philos Soc. 2007 Nov;82(4):699. PMID:17624960]
    • Springer M.S., Murphy W.J. Mammalian evolution and biomedicine: new views from phylogeny. Biol. Rev. Camb. Philos. Soc. Aug 2007, 82(3):375-392. [Review. Erratum in: Biol Rev Camb Philos Soc. 2007 Nov;82(4):699. PMID:17624960].
    • (2007) Biol. Rev. Camb. Philos. Soc. , vol.82 , Issue.3 , pp. 375-392
    • Springer, M.S.1    Murphy, W.J.2
  • 20
    • 68649101805 scopus 로고    scopus 로고
    • Common vs. rare allele hypotheses for complex diseases
    • [Epub 2009 May 28. Review. PMID:19481926]
    • Schork N.J., Murray S.S., Frazer K.A., Topol E.J. Common vs. rare allele hypotheses for complex diseases. Curr. Opin. Genet. Dev. Jun 2009, 19(3):212-219. [Epub 2009 May 28. Review. PMID:19481926].
    • (2009) Curr. Opin. Genet. Dev. , vol.19 , Issue.3 , pp. 212-219
    • Schork, N.J.1    Murray, S.S.2    Frazer, K.A.3    Topol, E.J.4
  • 21
    • 79951810290 scopus 로고    scopus 로고
    • The importance of phase information for human genomics
    • [Epub 2011 Feb 8. PMID:21301473]
    • Tewhey R., Bansal V., Torkamani A., Topol E.J., Schork N.J. The importance of phase information for human genomics. Nat. Rev. Genet. Mar 2011, 12(3):215-223. [Epub 2011 Feb 8. PMID:21301473].
    • (2011) Nat. Rev. Genet. , vol.12 , Issue.3 , pp. 215-223
    • Tewhey, R.1    Bansal, V.2    Torkamani, A.3    Topol, E.J.4    Schork, N.J.5
  • 24
    • 35348988170 scopus 로고    scopus 로고
    • Recent and ongoing selection in the human genome
    • [Review. PMID:17943193]
    • Nielsen R., Hellmann I., Hubisz M., Bustamante C., Clark A.G. Recent and ongoing selection in the human genome. Nat. Rev. Genet. Nov 2007, 8(11):857-868. [Review. PMID:17943193].
    • (2007) Nat. Rev. Genet. , vol.8 , Issue.11 , pp. 857-868
    • Nielsen, R.1    Hellmann, I.2    Hubisz, M.3    Bustamante, C.4    Clark, A.G.5
  • 25
    • 34147116715 scopus 로고    scopus 로고
    • Most rare missense alleles are deleterious in humans: implications for complex disease and association studies
    • [Epub 2007 Mar 8. PMID:17357078]
    • Kryukov G.V., Pennacchio L.A., Sunyaev S.R. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am. J. Hum. Genet. Apr 2007, 80(4):727-739. [Epub 2007 Mar 8. PMID:17357078].
    • (2007) Am. J. Hum. Genet. , vol.80 , Issue.4 , pp. 727-739
    • Kryukov, G.V.1    Pennacchio, L.A.2    Sunyaev, S.R.3
  • 26
    • 38749145596 scopus 로고    scopus 로고
    • Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms
    • Gorlov I.P., Gorlova O.Y., Sunyaev S.R., Spitz M.R., Amos C.I. Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am. J. Hum. Genet. Jan 2008, 82(1):100-112.
    • (2008) Am. J. Hum. Genet. , vol.82 , Issue.1 , pp. 100-112
    • Gorlov, I.P.1    Gorlova, O.Y.2    Sunyaev, S.R.3    Spitz, M.R.4    Amos, C.I.5
  • 27
    • 79953673289 scopus 로고    scopus 로고
    • A genome-wide comparison of the functional properties of rare and common genetic variants in humans
    • [Epub 2011 Mar 31. PMID:21457907]
    • Zhu Q., Ge D., Maia J.M., Zhu M., Petrovski S., Dickson S.P., Heinzen E.L., Shianna K.V., Goldstein D.B. A genome-wide comparison of the functional properties of rare and common genetic variants in humans. Am. J. Hum. Genet. Apr 8 2011, 88(4):458-468. [Epub 2011 Mar 31. PMID:21457907].
    • (2011) Am. J. Hum. Genet. , vol.88 , Issue.4 , pp. 458-468
    • Zhu, Q.1    Ge, D.2    Maia, J.M.3    Zhu, M.4    Petrovski, S.5    Dickson, S.P.6    Heinzen, E.L.7    Shianna, K.V.8    Goldstein, D.B.9
  • 28
    • 55449120805 scopus 로고    scopus 로고
    • Genetic mapping in human disease
    • [Review. PMID:18988837]
    • Altshuler D., Daly M.J., Lander E.S. Genetic mapping in human disease. Science Nov 7 2008, 322(5903):881-888. [Review. PMID:18988837].
    • (2008) Science , vol.322 , Issue.5903 , pp. 881-888
    • Altshuler, D.1    Daly, M.J.2    Lander, E.S.3
  • 29
    • 34147164581 scopus 로고    scopus 로고
    • Online resources for SNP analysis: a review and route map
    • [Review. PMID:17401150]
    • Phillips C. Online resources for SNP analysis: a review and route map. Mol. Biotechnol. Jan 2007, 35(1):65-97. [Review. PMID:17401150].
    • (2007) Mol. Biotechnol. , vol.35 , Issue.1 , pp. 65-97
    • Phillips, C.1
  • 30
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • [Epub 2009 Jun 25. PMID:19561590]
    • Kumar P., Henikoff S., Ng P.C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 2009, 4(7):1073-1081. [Epub 2009 Jun 25. PMID:19561590].
    • (2009) Nat. Protoc. , vol.4 , Issue.7 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 31
    • 65249089637 scopus 로고    scopus 로고
    • Local DNA topography correlates with functional noncoding regions of the human genome
    • Parker S.C., Hansen L., Abaan H.O., Tullius T.D., Margulies E.H. Local DNA topography correlates with functional noncoding regions of the human genome. Science Apr 17 2009, 324(5925):389-392.
    • (2009) Science , vol.324 , Issue.5925 , pp. 389-392
    • Parker, S.C.1    Hansen, L.2    Abaan, H.O.3    Tullius, T.D.4    Margulies, E.H.5
  • 32
    • 48249116424 scopus 로고    scopus 로고
    • Congenital disease SNPs target lineage specific structural elements in protein kinases
    • [Epub 2008 Jun 25. PMID:18579784]
    • Torkamani A., Kannan N., Taylor S.S., Schork N.J. Congenital disease SNPs target lineage specific structural elements in protein kinases. Proc. Natl. Acad. Sci. U. S. A. Jul 1 2008, 105(26):9011-9016. [Epub 2008 Jun 25. PMID:18579784].
    • (2008) Proc. Natl. Acad. Sci. U. S. A. , vol.105 , Issue.26 , pp. 9011-9016
    • Torkamani, A.1    Kannan, N.2    Taylor, S.S.3    Schork, N.J.4
  • 33
    • 33748520536 scopus 로고    scopus 로고
    • Knowledge-based prediction of DNA atomic structure from nucleic sequence
    • Araúzo-Bravo M.J., Sarai A. Knowledge-based prediction of DNA atomic structure from nucleic sequence. Genome Inform. 2005, 16(2):12-21.
    • (2005) Genome Inform. , vol.16 , Issue.2 , pp. 12-21
    • Araúzo-Bravo, M.J.1    Sarai, A.2
  • 34
    • 33644819291 scopus 로고    scopus 로고
    • Prediction of atomic structure from sequence for double helical DNA oligomers
    • Farwer J., Packer M.J., Hunter C.A. Prediction of atomic structure from sequence for double helical DNA oligomers. Biopolymers Jan 2006, 81(1):51-61.
    • (2006) Biopolymers , vol.81 , Issue.1 , pp. 51-61
    • Farwer, J.1    Packer, M.J.2    Hunter, C.A.3
  • 35
    • 77956873295 scopus 로고    scopus 로고
    • Disease-associated mutations that alter the RNA structural ensemble
    • Halvorsen M., Martin J.S., Broadaway S., Laederach A. Disease-associated mutations that alter the RNA structural ensemble. PLoS Genet. Aug 19 2010, 6(8):e1001074.
    • (2010) PLoS Genet. , vol.6 , Issue.8
    • Halvorsen, M.1    Martin, J.S.2    Broadaway, S.3    Laederach, A.4
  • 36
    • 61549094352 scopus 로고    scopus 로고
    • Computational modeling of structurally conserved cancer mutations in the RET and MET kinases: the impact on protein structure, dynamics, and stability
    • Dixit A., Torkamani A., Schork N.J., Verkhivker G. Computational modeling of structurally conserved cancer mutations in the RET and MET kinases: the impact on protein structure, dynamics, and stability. Biophys. J. Feb 2009, 96(3):858-874.
    • (2009) Biophys. J. , vol.96 , Issue.3 , pp. 858-874
    • Dixit, A.1    Torkamani, A.2    Schork, N.J.3    Verkhivker, G.4
  • 37
    • 70449379413 scopus 로고    scopus 로고
    • Sequence and structure signatures of cancer mutation hotspots in protein kinases
    • Dixit A., Yi L., Gowthaman R., Torkamani A., Schork N.J., Verkhivker G.M. Sequence and structure signatures of cancer mutation hotspots in protein kinases. PLoS One Oct 16 2009, 4(10):e7485.
    • (2009) PLoS One , vol.4 , Issue.10
    • Dixit, A.1    Yi, L.2    Gowthaman, R.3    Torkamani, A.4    Schork, N.J.5    Verkhivker, G.M.6
  • 38
    • 84895274359 scopus 로고    scopus 로고
    • From coding variant to structure and function insight. In: Protein Structure, Edited by Richard Schortemeyer III, NOVA Publishers, Hauppauge, New York, ISBN 978-1-61209-656-8.
    • A.J. Friedman, A. Torkamani, G. Verkhivker, N.J. Schork, From coding variant to structure and function insight. In: Protein Structure, Edited by Richard Schortemeyer III, NOVA Publishers, Hauppauge, New York, 2011. ISBN 978-1-61209-656-8.
    • (2011)
    • Friedman, A.J.1    Torkamani, A.2    Verkhivker, G.3    Schork, N.J.4
  • 40
    • 36448935249 scopus 로고    scopus 로고
    • Accurate prediction of deleterious protein kinase polymorphisms
    • Epub 2007 Sep 12. PMID:17855419
    • Torkamani A., Schork N.J. Accurate prediction of deleterious protein kinase polymorphisms. Bioinformatics Nov 1 2007, 23(21):2918-2925. Epub 2007 Sep 12. PMID:17855419.
    • (2007) Bioinformatics , vol.23 , Issue.21 , pp. 2918-2925
    • Torkamani, A.1    Schork, N.J.2
  • 42
    • 77955372966 scopus 로고    scopus 로고
    • Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease
    • Epub 2010 Jun 15. PMID:20551136
    • Xin F., Myers S., Li Y.F., Cooper D.N., Mooney S.D., Radivojac P. Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease. Bioinformatics Aug 15 2010, 26(16):1975-1982. Epub 2010 Jun 15. PMID:20551136.
    • (2010) Bioinformatics , vol.26 , Issue.16 , pp. 1975-1982
    • Xin, F.1    Myers, S.2    Li, Y.F.3    Cooper, D.N.4    Mooney, S.D.5    Radivojac, P.6
  • 43
    • 49549085766 scopus 로고    scopus 로고
    • Predicting functional regulatory polymorphisms
    • Epub 2008 Jun 18. PMID:18562267
    • Torkamani A., Schork N.J. Predicting functional regulatory polymorphisms. Bioinformatics Aug 15 2008, 24(16):1787-1792. Epub 2008 Jun 18. PMID:18562267.
    • (2008) Bioinformatics , vol.24 , Issue.16 , pp. 1787-1792
    • Torkamani, A.1    Schork, N.J.2
  • 44
    • 40949161558 scopus 로고    scopus 로고
    • Prediction of cancer driver mutations in protein kinases
    • Torkamani A., Schork N.J. Prediction of cancer driver mutations in protein kinases. Cancer Res. Mar 15 2008, 68(6):1675-1682.
    • (2008) Cancer Res. , vol.68 , Issue.6 , pp. 1675-1682
    • Torkamani, A.1    Schork, N.J.2
  • 45
    • 79958076372 scopus 로고    scopus 로고
    • A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1
    • [Epub 2011 Mar 29. PMID:21447777]
    • Iversen E., Couch F.J., Goldgar D.E., Tavtigian S., Monteiro A. A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. Cancer Epidemiol. Biomarkers Prev. Jun 2011, 20(6):1078-1088. [Epub 2011 Mar 29. PMID:21447777].
    • (2011) Cancer Epidemiol. Biomarkers Prev. , vol.20 , Issue.6 , pp. 1078-1088
    • Iversen, E.1    Couch, F.J.2    Goldgar, D.E.3    Tavtigian, S.4    Monteiro, A.5
  • 46
    • 34147122065 scopus 로고    scopus 로고
    • Mendelian inheritance in man and its online version, OMIM
    • [Epub 2007 Mar 8. No abstract available. PMID:17357067]
    • McKusick V.A. Mendelian inheritance in man and its online version, OMIM. Am. J. Hum. Genet. Apr 2007, 80(4):588-604. [Epub 2007 Mar 8. No abstract available. PMID:17357067].
    • (2007) Am. J. Hum. Genet. , vol.80 , Issue.4 , pp. 588-604
    • McKusick, V.A.1
  • 47
    • 66249141948 scopus 로고    scopus 로고
    • Alzheimer's disease genetics current status and future perspectives
    • [Review. PMID:19501718]
    • Bertram L. Alzheimer's disease genetics current status and future perspectives. Int. Rev. Neurobiol. 2009, 84:167-184. [Review. PMID:19501718].
    • (2009) Int. Rev. Neurobiol. , vol.84 , pp. 167-184
    • Bertram, L.1
  • 48
    • 33748742181 scopus 로고    scopus 로고
    • Concordance of functional in vitro data and epidemiological associations in complex disease genetics
    • [Review. PMID:16980815]
    • Ioannidis J.P., Kavvoura F.K. Concordance of functional in vitro data and epidemiological associations in complex disease genetics. Genet. Med. Sep 2006, 8(9):583-593. [Review. PMID:16980815].
    • (2006) Genet. Med. , vol.8 , Issue.9 , pp. 583-593
    • Ioannidis, J.P.1    Kavvoura, F.K.2
  • 49
    • 34548390940 scopus 로고    scopus 로고
    • In vitro assays fail to predict in vivo effects of regulatory polymorphisms
    • [Epub 2007 Jun 12. PMID:17566082]
    • Cirulli E.T., Goldstein D.B. In vitro assays fail to predict in vivo effects of regulatory polymorphisms. Hum. Mol. Genet. Aug 15 2007, 16(16):1931-1939. [Epub 2007 Jun 12. PMID:17566082].
    • (2007) Hum. Mol. Genet. , vol.16 , Issue.16 , pp. 1931-1939
    • Cirulli, E.T.1    Goldstein, D.B.2
  • 50
    • 34548733638 scopus 로고    scopus 로고
    • Medline search engine for finding genetic markers with biological significance
    • [Epub 2007 Sep 6. PMID:17823133]
    • Xuan W., Wang P., Watson S.J., Meng F. Medline search engine for finding genetic markers with biological significance. Bioinformatics Sep 15 2007, 23(18):2477-2484. [Epub 2007 Sep 6. PMID:17823133].
    • (2007) Bioinformatics , vol.23 , Issue.18 , pp. 2477-2484
    • Xuan, W.1    Wang, P.2    Watson, S.J.3    Meng, F.4
  • 51
    • 34147121568 scopus 로고    scopus 로고
    • DataBiNS: a BioMoby-based data-mining workflow for biological pathways and non-synonymous SNPs
    • Song Y.C., Kawas E., Good B.M., Wilkinson M.D., Tebbutt S.J. DataBiNS: a BioMoby-based data-mining workflow for biological pathways and non-synonymous SNPs. Bioinformatics Mar 15 2007, 23(6):780-782.
    • (2007) Bioinformatics , vol.23 , Issue.6 , pp. 780-782
    • Song, Y.C.1    Kawas, E.2    Good, B.M.3    Wilkinson, M.D.4    Tebbutt, S.J.5
  • 53
    • 15944383403 scopus 로고    scopus 로고
    • Gene-environment interactions in human diseases
    • [Review. PMID:15803198]
    • Hunter D.J. Gene-environment interactions in human diseases. Nat. Rev. Genet. Apr 2005, 6(4):287-298. [Review. PMID:15803198].
    • (2005) Nat. Rev. Genet. , vol.6 , Issue.4 , pp. 287-298
    • Hunter, D.J.1
  • 54
    • 79959751437 scopus 로고    scopus 로고
    • TOXPO: TOXicogenomics knowledgebase for inferring toxicity based on polymorphism
    • Jo Y., Koh I.S., Bae H., Hong M.C., Shin M.K., Kim Y.S. TOXPO: TOXicogenomics knowledgebase for inferring toxicity based on polymorphism. BioChip J. 2010, 4(2):99-104.
    • (2010) BioChip J. , vol.4 , Issue.2 , pp. 99-104
    • Jo, Y.1    Koh, I.S.2    Bae, H.3    Hong, M.C.4    Shin, M.K.5    Kim, Y.S.6
  • 55
    • 27744460659 scopus 로고    scopus 로고
    • PharmGKB: the pharmacogenetics and pharmacogenomics knowledge base
    • [Review. PMID:16100408]
    • Thorn C.F., Klein T.E., Altman R.B. PharmGKB: the pharmacogenetics and pharmacogenomics knowledge base. Methods Mol. Biol. 2005, 311:179-191. [Review. PMID:16100408].
    • (2005) Methods Mol. Biol. , vol.311 , pp. 179-191
    • Thorn, C.F.1    Klein, T.E.2    Altman, R.B.3
  • 57
    • 60349092402 scopus 로고    scopus 로고
    • Mapping complex disease traits with global gene expression
    • [Review. PMID:19223927]
    • Cookson W., Liang L., Abecasis G., Moffatt M., Lathrop M. Mapping complex disease traits with global gene expression. Nat. Rev. Genet. Mar 2009, 10(3):184-194. [Review. PMID:19223927].
    • (2009) Nat. Rev. Genet. , vol.10 , Issue.3 , pp. 184-194
    • Cookson, W.1    Liang, L.2    Abecasis, G.3    Moffatt, M.4    Lathrop, M.5
  • 58
    • 47249142778 scopus 로고    scopus 로고
    • Revealing the architecture of gene regulation: the promise of eQTL studies
    • [Epub 2008 Jul 1. Review. PMID:18597885]
    • Gilad Y., Rifkin S.A., Pritchard J.K. Revealing the architecture of gene regulation: the promise of eQTL studies. Trends Genet. Aug 2008, 24(8):408-415. [Epub 2008 Jul 1. Review. PMID:18597885].
    • (2008) Trends Genet. , vol.24 , Issue.8 , pp. 408-415
    • Gilad, Y.1    Rifkin, S.A.2    Pritchard, J.K.3
  • 61
    • 76049095642 scopus 로고    scopus 로고
    • Mapping allele-specific DNA methylation: a new tool for maximizing information from GWAS
    • Tycko B. Mapping allele-specific DNA methylation: a new tool for maximizing information from GWAS. Am. J. Hum. Genet. Feb 12 2010, 86(2):109-112.
    • (2010) Am. J. Hum. Genet. , vol.86 , Issue.2 , pp. 109-112
    • Tycko, B.1
  • 62
    • 78651552406 scopus 로고    scopus 로고
    • DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines
    • [Epub ahead of print] PMID:21251332
    • Bell J.T., Pai A.A., Pickrell J.K., Gaffney D.J., Pique-Regi R., Degner J.F., Gilad Y., Pritchard J.K. DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines. Genome Biol. Jan 20 2011, 12(1):R10. [Epub ahead of print] PMID:21251332.
    • (2011) Genome Biol. , vol.12 , Issue.1
    • Bell, J.T.1    Pai, A.A.2    Pickrell, J.K.3    Gaffney, D.J.4    Pique-Regi, R.5    Degner, J.F.6    Gilad, Y.7    Pritchard, J.K.8
  • 63
    • 77951439152 scopus 로고    scopus 로고
    • Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS
    • Nicolae D.L., Gamazon E., Zhang W., Duan S., Dolan M.E., Cox N.J. Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genet. Apr 1 2010, 6(4):e1000888.
    • (2010) PLoS Genet. , vol.6 , Issue.4
    • Nicolae, D.L.1    Gamazon, E.2    Zhang, W.3    Duan, S.4    Dolan, M.E.5    Cox, N.J.6
  • 64
    • 79954986866 scopus 로고    scopus 로고
    • A new face and new challenges for online Mendelian inheritance in man (OMIM)
    • Amberger J., Bocchini C., Hamosh A. A new face and new challenges for online Mendelian inheritance in man (OMIM). Hum. Mutat. May 2011, 32(5):564-567. 10.1002/humu.21466. Epub 2011 Apr 5.
    • (2011) Hum. Mutat. , vol.32 , Issue.5 , pp. 564-567
    • Amberger, J.1    Bocchini, C.2    Hamosh, A.3
  • 65
    • 60549083544 scopus 로고    scopus 로고
    • An open access database of genome-wide association results
    • Johnson A.D., O'Donnell C.J. An open access database of genome-wide association results. BMC Med. Genet. Jan 22 2009, 10:6.
    • (2009) BMC Med. Genet. , vol.10 , pp. 6
    • Johnson, A.D.1    O'Donnell, C.J.2
  • 68
    • 79851493086 scopus 로고    scopus 로고
    • Effect of direct-to-consumer genomewide profiling to assess disease risk
    • [Epub 2011 Jan 12. PMID:21226570]
    • Bloss C.S., Schork N.J., Topol E.J. Effect of direct-to-consumer genomewide profiling to assess disease risk. N. Engl. J. Med. Feb 10 2011, 364(6):524-534. [Epub 2011 Jan 12. PMID:21226570].
    • (2011) N. Engl. J. Med. , vol.364 , Issue.6 , pp. 524-534
    • Bloss, C.S.1    Schork, N.J.2    Topol, E.J.3
  • 69
    • 77649209124 scopus 로고    scopus 로고
    • The genetic interpretation of area under the ROC curve in genomic profiling
    • Wray N.R., Yang J., Goddard M.E., Visscher P.M. The genetic interpretation of area under the ROC curve in genomic profiling. PLoS Genet. Feb 26 2010, 6(2):e1000864.
    • (2010) PLoS Genet. , vol.6 , Issue.2
    • Wray, N.R.1    Yang, J.2    Goddard, M.E.3    Visscher, P.M.4
  • 70
    • 78650687187 scopus 로고    scopus 로고
    • A unifying framework for evaluating the predictive power of genetic variants based on the level of heritability explained
    • So H.C., Sham P.C. A unifying framework for evaluating the predictive power of genetic variants based on the level of heritability explained. PLoS Genet. Dec 2 2010, 6(12):e1001230.
    • (2010) PLoS Genet. , vol.6 , Issue.12
    • So, H.C.1    Sham, P.C.2
  • 71
    • 78650373804 scopus 로고    scopus 로고
    • Network medicine: a network-based approach to human disease
    • [Review. PMID:21164525]
    • Barabási A.L., Gulbahce N., Loscalzo J. Network medicine: a network-based approach to human disease. Nat. Rev. Genet. Jan 2011, 12(1):56-68. [Review. PMID:21164525].
    • (2011) Nat. Rev. Genet. , vol.12 , Issue.1 , pp. 56-68
    • Barabási, A.L.1    Gulbahce, N.2    Loscalzo, J.3
  • 72
    • 78549251736 scopus 로고    scopus 로고
    • Analysing biological pathways in genome-wide association studies
    • [Review. PMID:21085203]
    • Wang K., Li M., Hakonarson H. Analysing biological pathways in genome-wide association studies. Nat. Rev. Genet. Dec 2010, 11(12):843-854. [Review. PMID:21085203].
    • (2010) Nat. Rev. Genet. , vol.11 , Issue.12 , pp. 843-854
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 73
    • 79955038968 scopus 로고    scopus 로고
    • Use of whole genome sequencing to diagnose a cryptic fusion oncogene
    • Welch J.S., et al. Use of whole genome sequencing to diagnose a cryptic fusion oncogene. J. Am. Med. Assoc. 2011, 305:1577-1584.
    • (2011) J. Am. Med. Assoc. , vol.305 , pp. 1577-1584
    • Welch, J.S.1
  • 74
    • 53649098737 scopus 로고    scopus 로고
    • Pathway analysis of seven common diseases assessed by genome-wide association
    • [Epub 2008 Sep 16. PMID:18722519]
    • Torkamani A., Topol E.J., Schork N.J. Pathway analysis of seven common diseases assessed by genome-wide association. Genomics Nov 2008, 92(5):265-272. [Epub 2008 Sep 16. PMID:18722519].
    • (2008) Genomics , vol.92 , Issue.5 , pp. 265-272
    • Torkamani, A.1    Topol, E.J.2    Schork, N.J.3
  • 75
    • 34447269195 scopus 로고    scopus 로고
    • In silico analysis of SNPs and other high-throughput data
    • Jamshidi N., Vo T.D., Palsson B.O. In silico analysis of SNPs and other high-throughput data. Methods Mol. Biol. 2007, 366:267-285.
    • (2007) Methods Mol. Biol. , vol.366 , pp. 267-285
    • Jamshidi, N.1    Vo, T.D.2    Palsson, B.O.3
  • 76
    • 33846086384 scopus 로고    scopus 로고
    • Systems biology of SNPs
    • [Epub 2006 Jul 4. Review. PMID:16820779]
    • Jamshidi N., Palsson B.Ø. Systems biology of SNPs. Mol. Syst. Biol. 2006, 2:38. [Epub 2006 Jul 4. Review. PMID:16820779].
    • (2006) Mol. Syst. Biol. , vol.2 , pp. 38
    • Jamshidi, N.1    Palsson, B.Ø.2
  • 77
    • 66949125819 scopus 로고    scopus 로고
    • Using in silico models to simulate dual perturbation experiments: procedure development and interpretation of outcomes
    • Jamshidi N., Palsson B.O. Using in silico models to simulate dual perturbation experiments: procedure development and interpretation of outcomes. BMC Syst. Biol. Apr 30 2009, 3:44.
    • (2009) BMC Syst. Biol. , vol.3 , pp. 44
    • Jamshidi, N.1    Palsson, B.O.2
  • 78
    • 41549139527 scopus 로고    scopus 로고
    • Walking the interactome for prioritization of candidate disease genes
    • [Epub 2008 Mar 27. PMID:18371930]
    • Köhler S., Bauer S., Horn D., Robinson P.N. Walking the interactome for prioritization of candidate disease genes. Am. J. Hum. Genet. Apr 2008, 82(4):949-958. [Epub 2008 Mar 27. PMID:18371930].
    • (2008) Am. J. Hum. Genet. , vol.82 , Issue.4 , pp. 949-958
    • Köhler, S.1    Bauer, S.2    Horn, D.3    Robinson, P.N.4
  • 80
    • 79953325544 scopus 로고    scopus 로고
    • Efficient and cost effective population resequencing by pooling and in-solution hybridization
    • Bansal V., Tewhey R., Leproust E.M., Schork N.J. Efficient and cost effective population resequencing by pooling and in-solution hybridization. PLoS One Mar 30 2011, 6(3):e18353.
    • (2011) PLoS One , vol.6 , Issue.3
    • Bansal, V.1    Tewhey, R.2    Leproust, E.M.3    Schork, N.J.4
  • 83
    • 42949172329 scopus 로고    scopus 로고
    • A panel of ancestry informative markers for estimating individual biogeographical ancestry and admixture from four continents: utility and applications
    • Halder I., Shriver M., Thomas M., Fernandez J.R., Frudakis T. A panel of ancestry informative markers for estimating individual biogeographical ancestry and admixture from four continents: utility and applications. Hum. Mutat. May 2008, 29(5):648-658.
    • (2008) Hum. Mutat. , vol.29 , Issue.5 , pp. 648-658
    • Halder, I.1    Shriver, M.2    Thomas, M.3    Fernandez, J.R.4    Frudakis, T.5
  • 84
    • 66349088624 scopus 로고    scopus 로고
    • Inference of locus-specific ancestry in closely related populations
    • Pasaniuc B., Sankararaman S., Kimmel G., Halperin E. Inference of locus-specific ancestry in closely related populations. Bioinformatics Jun 15 2009, 25(12):i213-i221.
    • (2009) Bioinformatics , vol.25 , Issue.12
    • Pasaniuc, B.1    Sankararaman, S.2    Kimmel, G.3    Halperin, E.4
  • 87
    • 79953176321 scopus 로고    scopus 로고
    • Detecting directional selection in the presence of recent admixture in African-Americans
    • [Epub 2010 Dec 31. PMID:21196524]
    • Lohmueller K.E., Bustamante C.D., Clark A.G. Detecting directional selection in the presence of recent admixture in African-Americans. Genetics Mar 2011, 187(3):823-835. [Epub 2010 Dec 31. PMID:21196524].
    • (2011) Genetics , vol.187 , Issue.3 , pp. 823-835
    • Lohmueller, K.E.1    Bustamante, C.D.2    Clark, A.G.3
  • 88
    • 78650791604 scopus 로고    scopus 로고
    • Analysis of next-generation genomic data in cancer: accomplishments and challenges
    • Epub 2010 Sep 15. Review. PMID:20843826
    • Ding L., Wendl M.C., Koboldt D.C., Mardis E.R. Analysis of next-generation genomic data in cancer: accomplishments and challenges. Hum. Mol. Genet. Oct 15 2010, 19(R2):R188-R196. Epub 2010 Sep 15. Review. PMID:20843826.
    • (2010) Hum. Mol. Genet. , vol.19 , Issue.R2
    • Ding, L.1    Wendl, M.C.2    Koboldt, D.C.3    Mardis, E.R.4
  • 92
    • 84934443152 scopus 로고    scopus 로고
    • Cancer genome analysis informatics
    • [Review. PMID:20238077]
    • Barrett I.P. Cancer genome analysis informatics. Methods Mol. Biol. 2010, 628:75-102. [Review. PMID:20238077].
    • (2010) Methods Mol. Biol. , vol.628 , pp. 75-102
    • Barrett, I.P.1
  • 100
    • 78650775954 scopus 로고    scopus 로고
    • The $1,000 genome, the $100,000 analysis?
    • [No abstract available. PMID:21114804]
    • Mardis E.R. The $1,000 genome, the $100,000 analysis?. Genome Med. Nov 26 2010, 2(11):84. [No abstract available. PMID:21114804].
    • (2010) Genome Med. , vol.2 , Issue.11 , pp. 84
    • Mardis, E.R.1
  • 103
    • 56349096931 scopus 로고    scopus 로고
    • Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk
    • UK Type 2 Diabetes Genetics Consortium.
    • Lango H., UK Type 2 Diabetes Genetics Consortium, Palmer C.N., Morris A.D., Zeggini E., Hattersley A.T., McCarthy M.I., Frayling T.M., Weedon M.N. Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. Diabetes Nov 2008, 57(11):3129-3135.
    • (2008) Diabetes , vol.57 , Issue.11 , pp. 3129-3135
    • Lango, H.1    Palmer, C.N.2    Morris, A.D.3    Zeggini, E.4    Hattersley, A.T.5    McCarthy, M.I.6    Frayling, T.M.7    Weedon, M.N.8
  • 104
    • 41149116631 scopus 로고    scopus 로고
    • Using the optimal receiver operating characteristic curve to design a predictive genetic test, exemplified with type 2 diabetes
    • Lu Q., Elston R.C. Using the optimal receiver operating characteristic curve to design a predictive genetic test, exemplified with type 2 diabetes. Am. J. Hum. Genet. Mar 2008, 82(3):641-651.
    • (2008) Am. J. Hum. Genet. , vol.82 , Issue.3 , pp. 641-651
    • Lu, Q.1    Elston, R.C.2
  • 107
    • 47749124258 scopus 로고    scopus 로고
    • Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value
    • Cauchi S., Meyre D., Durand E., Proenca C., Marre M., et al. Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value. PLoS One 2008, 3(5):e2031. 10.1371/journal.pone.0002031.
    • (2008) PLoS One , vol.3 , Issue.5
    • Cauchi, S.1    Meyre, D.2    Durand, E.3    Proenca, C.4    Marre, M.5
  • 109
    • 71249111648 scopus 로고    scopus 로고
    • The effect of multiple genetic variants in predicting the risk of type 2 diabetes
    • Lu Q., Song Y., Wang X., Won S., Cui Y., Elston R.C. The effect of multiple genetic variants in predicting the risk of type 2 diabetes. BMC Proc Dec 15 2009, 3(Suppl 7):S49.
    • (2009) BMC Proc , vol.3 , Issue.SUPPL 7
    • Lu, Q.1    Song, Y.2    Wang, X.3    Won, S.4    Cui, Y.5    Elston, R.C.6
  • 110
    • 66249089500 scopus 로고    scopus 로고
    • Construction of a prediction model for type 2 diabetes mellitus in the Japanese population based on 11 genes with strong evidence of the association
    • [Epub 2009 Feb 27]
    • Miyake K., Yang W., Hara K., Yasuda K., Horikawa Y., Osawa H., Furuta H., et al. Construction of a prediction model for type 2 diabetes mellitus in the Japanese population based on 11 genes with strong evidence of the association. J. Hum. Genet. Apr 2009, 54(4):236-241. [Epub 2009 Feb 27].
    • (2009) J. Hum. Genet. , vol.54 , Issue.4 , pp. 236-241
    • Miyake, K.1    Yang, W.2    Hara, K.3    Yasuda, K.4    Horikawa, Y.5    Osawa, H.6    Furuta, H.7


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