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Volumn 14, Issue 5, 2006, Pages 535-542

A text-mining analysis of the human phenome

Author keywords

Candidate disease genes; Phenome; Phenotype genotype relations; Text mining

Indexed keywords

AMINO ACID SEQUENCE; ARTICLE; BIOINFORMATICS; CONTROLLED STUDY; CORRELATION ANALYSIS; GENE CLUSTER; GENE FUNCTION; GENE INTERACTION; GENE MAPPING; GENE SEQUENCE; GENE VECTOR; GENETIC ANALYSIS; GENETIC DATABASE; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INHERITANCE; INTERNET; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHOTORECEPTOR; PREDICTION; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN INTERACTION; PROTEIN MOTIF;

EID: 33646058032     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201585     Document Type: Article
Times cited : (543)

References (39)
  • 1
    • 0842309871 scopus 로고    scopus 로고
    • Genome-wide RNAi analysis of growth and viability in Drosophila cells
    • Boutros M, Kiger AA, Armknecht S et al: Genome-wide RNAi analysis of growth and viability in Drosophila cells. Science 2004; 303: 832-835.
    • (2004) Science , vol.303 , pp. 832-835
    • Boutros, M.1    Kiger, A.A.2    Armknecht, S.3
  • 2
    • 0037173615 scopus 로고    scopus 로고
    • Functional profiling of the Saccharomyces cerevisiae genome
    • Giaever G, Chu AM, Ni L et al: Functional profiling of the Saccharomyces cerevisiae genome. Nature 2002; 418: 387-391.
    • (2002) Nature , vol.418 , pp. 387-391
    • Giaever, G.1    Chu, A.M.2    Ni, L.3
  • 3
    • 7444270371 scopus 로고    scopus 로고
    • Toward improving Caenorhabditis elegans phenome mapping with an ORFeome-based RNAi library
    • Rual JF, Ceron J, Koreth J et al: Toward improving Caenorhabditis elegans phenome mapping with an ORFeome-based RNAi library. Genome Res 2004; 14: 2162-2168.
    • (2004) Genome Res , vol.14 , pp. 2162-2168
    • Rual, J.F.1    Ceron, J.2    Koreth, J.3
  • 4
    • 4444242995 scopus 로고    scopus 로고
    • The European dimension for the mouse genome mutagenesis program
    • Auwerx J, Avner P, Baldock R et al: The European dimension for the mouse genome mutagenesis program. Nat Genet 2004; 36: 925-927.
    • (2004) Nat Genet , vol.36 , pp. 925-927
    • Auwerx, J.1    Avner, P.2    Baldock, R.3
  • 6
    • 3543106033 scopus 로고    scopus 로고
    • Genome-wide identification of genes likely to be involved in human genetic disease
    • Lopez-Bigas N, Ouzounis CA: Genome-wide identification of genes likely to be involved in human genetic disease. Nucleic Acids Res 2004; 32: 3108-3114.
    • (2004) Nucleic Acids Res , vol.32 , pp. 3108-3114
    • Lopez-Bigas, N.1    Ouzounis, C.A.2
  • 7
    • 0036649742 scopus 로고    scopus 로고
    • Association of genes to genetically inherited diseases using data mining
    • Perez-Iratxeta C, Bork P, Andrade MA: Association of genes to genetically inherited diseases using data mining. Nat Genet 2002; 31: 316-319.
    • (2002) Nat Genet , vol.31 , pp. 316-319
    • Perez-Iratxeta, C.1    Bork, P.2    Andrade, M.A.3
  • 8
    • 3042841887 scopus 로고    scopus 로고
    • From syndrome families to functional genomics
    • Brunner HG, van Driel MA: From syndrome families to functional genomics. Nat Rev Genet 2004; 5: 545-551.
    • (2004) Nat Rev Genet , vol.5 , pp. 545-551
    • Brunner, H.G.1    van Driel, M.A.2
  • 9
    • 0038670579 scopus 로고    scopus 로고
    • The human phenome project
    • Freimer N, Sabatti C: The human phenome project. Nat Genet 2003; 34: 15-21.
    • (2003) Nat Genet , vol.34 , pp. 15-21
    • Freimer, N.1    Sabatti, C.2
  • 10
    • 0042736653 scopus 로고    scopus 로고
    • How clinicians add to knowledge of development
    • Donnai D, Read AP: How clinicians add to knowledge of development. Lancet 2003; 362: 477-484.
    • (2003) Lancet , vol.362 , pp. 477-484
    • Donnai, D.1    Read, A.P.2
  • 11
    • 0037195178 scopus 로고    scopus 로고
    • A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes
    • Katsanis N, Worley KC, Gonzalez G, Ansley SJ, Lupski JR: A computational/ functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes. Proc Natl Acad Sci USA 2002; 99: 14326-14331.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 14326-14331
    • Katsanis, N.1    Worley, K.C.2    Gonzalez, G.3    Ansley, S.J.4    Lupski, J.R.5
  • 12
    • 0035998736 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
    • Hamosh A, Scott AF, Amberger J, Bocchini C, Valle D, McKusick VA: Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res 2002; 30: 52-55.
    • (2002) Nucleic Acids Res , vol.30 , pp. 52-55
    • Hamosh, A.1    Scott, A.F.2    Amberger, J.3    Bocchini, C.4    Valle, D.5    McKusick, V.A.6
  • 13
    • 0035042776 scopus 로고    scopus 로고
    • A literature network of human genes for high-throughput analysis of gene expression
    • Jenssen TK, Laegreid A, Komorowski J, Hovig E: A literature network of human genes for high-throughput analysis of gene expression. Nat Genet 2001; 28: 21-28.
    • (2001) Nat Genet , vol.28 , pp. 21-28
    • Jenssen, T.K.1    Laegreid, A.2    Komorowski, J.3    Hovig, E.4
  • 14
    • 0031690080 scopus 로고    scopus 로고
    • Automatic extraction of keywords from scientific text: Application to the knowledge domain of protein families
    • Andrade MA, Valencia A: Automatic extraction of keywords from scientific text: Application to the knowledge domain of protein families. Bioinformatics 1998; 14: 600-607.
    • (1998) Bioinformatics , vol.14 , pp. 600-607
    • Andrade, M.A.1    Valencia, A.2
  • 15
    • 0029989103 scopus 로고    scopus 로고
    • An analysis of statistical term strength and its use in the indexing and retrieval of molecular biology texts
    • Wilbur WJ, Yang Y: An analysis of statistical term strength and its use in the indexing and retrieval of molecular biology texts. Comput Biol Med 1996; 26: 209-222.
    • (1996) Comput Biol Med , vol.26 , pp. 209-222
    • Wilbur, W.J.1    Yang, Y.2
  • 17
    • 9144232912 scopus 로고    scopus 로고
    • UniProt: The Universal Protein knowledgebase
    • (Database issue)
    • ApwTiler R, Bairoch A, Wu CH et al: UniProt: the Universal Protein knowledgebase. Nucleic Acids Res 2004; 32 (Database issue): D115-D119.
    • (2004) Nucleic Acids Res , vol.32
    • Apweiler, R.1    Bairoch, A.2    Wu, C.H.3
  • 19
    • 9144257886 scopus 로고    scopus 로고
    • The Pfam protein families database
    • (Database issue)
    • Bateman A, Coin L, Durbin R et al: The Pfam protein families database. Nucleic Acids Res 2004; 32 (Database issue): D138-D141.
    • (2004) Nucleic Acids Res , vol.32
    • Bateman, A.1    Coin, L.2    Durbin, R.3
  • 20
    • 0019887799 scopus 로고
    • Identification of common molecular subsequences
    • Smith TF, Waterman MS: Identification of common molecular subsequences. J Mol Biol 1981; 147: 195-197.
    • (1981) J Mol Biol , vol.147 , pp. 195-197
    • Smith, T.F.1    Waterman, M.S.2
  • 21
    • 0032568596 scopus 로고    scopus 로고
    • Assessing sequence comparison methods with reliable structurally identified distant evolutionary relationships
    • Brenner SE, Chothia C, Hubbard TJ: Assessing sequence comparison methods with reliable structurally identified distant evolutionary relationships. Proc Natl Acad Sci USA 1998; 95: 6073-6078.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 6073-6078
    • Brenner, S.E.1    Chothia, C.2    Hubbard, T.J.3
  • 22
    • 10744224197 scopus 로고    scopus 로고
    • Development of human protein reference database as an initial platform for approaching systems biology in humans
    • Peri S, Navarro JD, Amanchy R et al: Development of human protein reference database as an initial platform for approaching systems biology in humans. Genome Res 2003; 13: 2363-2371.
    • (2003) Genome Res , vol.13 , pp. 2363-2371
    • Peri, S.1    Navarro, J.D.2    Amanchy, R.3
  • 23
    • 0034069495 scopus 로고    scopus 로고
    • Gene ontology: Tool for the unification of biology. The Gene Ontology Consortium
    • AshburnerTM, Ball CA, Blake JA et al: Gene ontology: tool for the unification of biology. The Gene Ontology Consortium. Nat Genet 2000; 25: 25-29.
    • (2000) Nat Genet , vol.25 , pp. 25-29
    • Ashburner, M.1    Ball, C.A.2    Blake, J.A.3
  • 24
    • 0037396730 scopus 로고    scopus 로고
    • The gene ontology annotation (GOA) project: Implementation of GO in SWISS-PROT, TrEMBL, and InterPro
    • Camon E, Magrane M, Barrell D et al: The gene ontology annotation (GOA) project: Implementation of GO in SWISS-PROT, TrEMBL, and InterPro. Genome Res 2003; 13: 662-672.
    • (2003) Genome Res , vol.13 , pp. 662-672
    • Camon, E.1    Magrane, M.2    Barrell, D.3
  • 25
    • 0038492417 scopus 로고    scopus 로고
    • A Bayesian framework for combining heterogeneous data sources for gene function prediction (in Saccharomyces cerevisiae)
    • Troyanskaya OG, Dolinski K, Owen AB, Altman RB, Botstein D: A Bayesian framework for combining heterogeneous data sources for gene function prediction (in Saccharomyces cerevisiae). Proc Natl Acad Sci USA 2003; 100: 8348-8353.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 8348-8353
    • Troyanskaya, O.G.1    Dolinski, K.2    Owen, A.B.3    Altman, R.B.4    Botstein, D.5
  • 26
    • 0000825481 scopus 로고
    • A statistical method for evaluation of systematic relationships
    • Sokal RR, Mitchener CD: A statistical method for evaluation of systematic relationships. Univ Kansas Sci Bull 1958; 28: 1409-1438.
    • (1958) Univ Kansas Sci Bull , vol.28 , pp. 1409-1438
    • Sokal, R.R.1    Mitchener, C.D.2
  • 28
    • 0035953559 scopus 로고    scopus 로고
    • Coexistence of hypertrophic cardiomyopathy and fibromuscular dysplasia of the superior mesenteric artery
    • Safioleas M, Kakisis J, Manti C: Coexistence of hypertrophic cardiomyopathy and fibromuscular dysplasia of the superior mesenteric artery. N Engl J Med 2001; 344: 1333-1334.
    • (2001) N Engl J Med , vol.344 , pp. 1333-1334
    • Safioleas, M.1    Kakisis, J.2    Manti, C.3
  • 29
    • 85023354820 scopus 로고
    • Case records of the Massachusetts general hospital: Case 9-1995
    • Scully RE, Mark EJ, McNeely WF, McNeely BU: Case records of the Massachusetts general hospital: Case 9-1995. N Engl J Med 1995; 332: 804-810.
    • (1995) N Engl J Med , vol.332 , pp. 804-810
    • Scully, R.E.1    Mark, E.J.2    McNeely, W.F.3    McNeely, B.U.4
  • 31
    • 0038392871 scopus 로고    scopus 로고
    • Contingent phosphorylation/dephosphorylation provides a mechanism of molecular memory in WASP
    • Torres E, Rosen MK: Contingent phosphorylation/dephosphorylation provides a mechanism of molecular memory in WASP. Mol Cell 2003; 11: 1215-1227.
    • (2003) Mol Cell , vol.11 , pp. 1215-1227
    • Torres, E.1    Rosen, M.K.2
  • 33
    • 0345863907 scopus 로고    scopus 로고
    • BRENDA, the enzyme database: Updates and major new developments
    • (Database issue)
    • Schomburg I, Chang A, Ebeling C et al: BRENDA, the enzyme database: updates and major new developments. Nucleic Acids Res 2004; 32 (Database issue): D431-D433.
    • (2004) Nucleic Acids Res , vol.32
    • Schomburg, I.1    Chang, A.2    Ebeling, C.3
  • 34
    • 3242727532 scopus 로고    scopus 로고
    • The Genome Knowledgebase: A resource for biologists and bioinformaticists
    • Joshi-Tope G, VastriA I, Gopinath GR et al: The Genome Knowledgebase: a resource for biologists and bioinformaticists. Cold Spring Harb Symp Quant Biol 2003; 68: 237-243.
    • (2003) Cold Spring Harb Symp Quant Biol , vol.68 , pp. 237-243
    • Joshi-Tope, G.1    Vastrik, I.2    Gopinath, G.R.3
  • 35
    • 0032159062 scopus 로고    scopus 로고
    • Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells
    • Chen J, Silver DP, Walpita D et al: Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells. Mol Cell 1998; 2: 317-328.
    • (1998) Mol Cell , vol.2 , pp. 317-328
    • Chen, J.1    Silver, D.P.2    Walpita, D.3
  • 37
    • 7144255533 scopus 로고    scopus 로고
    • Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products
    • van Slegtenhorst M, Nellist M, Nagelkerken B et al: Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet 1998; 7: 1053-1057.
    • (1998) Hum Mol Genet , vol.7 , pp. 1053-1057
    • van Slegtenhorst, M.1    Nellist, M.2    Nagelkerken, B.3
  • 38
    • 0037268338 scopus 로고    scopus 로고
    • The Fanconi anaemia/BRCA pathway
    • D'Andrea AD, Grompe M: The Fanconi anaemia/BRCA pathway. Nat Rev Cancer 2003; 3: 23-34.
    • (2003) Nat Rev Cancer , vol.3 , pp. 23-34
    • D'Andrea, A.D.1    Grompe, M.2
  • 39
    • 25144476377 scopus 로고    scopus 로고
    • Mapping phenotypes to language: A proposal to organize and standardize the clinical descriptions of malformations
    • Biesecker LG: Mapping phenAtypes to language: a proposal to organize and standardize the clinical descriptions of malformations. Clin Genet 2005; 68: 320-326.
    • (2005) Clin Genet , vol.68 , pp. 320-326
    • Biesecker, L.G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.