메뉴 건너뛰기




Volumn 32, Issue 10, 2011, Pages

DRUMS: A human disease related unique gene mutation search engine

Author keywords

Central database; Genotype phenotype; Locus specific database; LSDB, search engine

Indexed keywords

ARTICLE; DATA BASE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; INFORMATION SYSTEM; PRIORITY JOURNAL;

EID: 80052975426     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21556     Document Type: Article
Times cited : (6)

References (23)
  • 1
    • 0035752429 scopus 로고    scopus 로고
    • Effective mapping of biomedical text to the UMLs Metathesaurus: the MetaMap program
    • Aronson AR. 2001. Effective mapping of biomedical text to the UMLs Metathesaurus: the MetaMap program. Proc Amia Symp 17-21.
    • (2001) Proc Amia Symp , pp. 17-21
    • Aronson, A.R.1
  • 2
    • 0342545408 scopus 로고    scopus 로고
    • UMD (universal mutation database): a generic software to build and analyze locus-specific databases
    • Béroud C, Collod-Béroud G, Boileau C, Soussi T, Junien C. 2000. UMD (universal mutation database): a generic software to build and analyze locus-specific databases. Hum Mutat 15:86-94.
    • (2000) Hum Mutat , vol.15 , pp. 86-94
    • Béroud, C.1    Collod-Béroud, G.2    Boileau, C.3    Soussi, T.4    Junien, C.5
  • 4
    • 0036107052 scopus 로고    scopus 로고
    • Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases
    • Claustres M, Horaitis O, Vanevski M, Cotton RG. 2002. Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases. Genome Res 12:680-688.
    • (2002) Genome Res , vol.12 , pp. 680-688
    • Claustres, M.1    Horaitis, O.2    Vanevski, M.3    Cotton, R.G.4
  • 9
    • 22844452823 scopus 로고    scopus 로고
    • Lovd: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach
    • Fokkema IFAC, den Dunnen JT, Taschner PEM. 2005. Lovd: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat 26:63-68.
    • (2005) Hum Mutat , vol.26 , pp. 63-68
    • Fokkema, I.F.A.C.1    den Dunnen, J.T.2    Taschner, P.E.M.3
  • 12
    • 13444266370 scopus 로고    scopus 로고
    • Online Mendelian inheritance in man (OMIM), a knowledge base of human genes and genetic disorders
    • Hamosh A. 2004. Online Mendelian inheritance in man (OMIM), a knowledge base of human genes and genetic disorders. Nucleic Acids Res 33:D514-D517.
    • (2004) Nucleic Acids Res , vol.33
    • Hamosh, A.1
  • 15
    • 78650488246 scopus 로고    scopus 로고
    • Locus-specific database domain and data content analysis: evolution and content maturation toward clinical use
    • Mitropoulou C, Webb A, Mitropoulos K, Brookes A, Patrinos G. 2010. Locus-specific database domain and data content analysis: evolution and content maturation toward clinical use. Hum Mutat 31:1109-1116.
    • (2010) Hum Mutat , vol.31 , pp. 1109-1116
    • Mitropoulou, C.1    Webb, A.2    Mitropoulos, K.3    Brookes, A.4    Patrinos, G.5
  • 16
    • 0014757386 scopus 로고
    • A general method applicable to the search for similarities in the amino acid sequence of two proteins
    • Needleman SB, Wunsch CD. 1970. A general method applicable to the search for similarities in the amino acid sequence of two proteins. J Mol Biol 48:443-453.
    • (1970) J Mol Biol , vol.48 , pp. 443-453
    • Needleman, S.B.1    Wunsch, C.D.2
  • 17
    • 17144416442 scopus 로고    scopus 로고
    • DNA, diseases and databases: disastrously deficient
    • Patrinos GP, Brookes AJ. 2005. DNA, diseases and databases: disastrously deficient. Trends Genet 21:333-338.
    • (2005) Trends Genet , vol.21 , pp. 333-338
    • Patrinos, G.P.1    Brookes, A.J.2
  • 18
    • 13444306641 scopus 로고    scopus 로고
    • NCBI reference sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins
    • Pruitt KD, Tatusova T, Maglott DR. 2005. NCBI reference sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins. Nucleic Acids Res 33:D501-D504.
    • (2005) Nucleic Acids Res , vol.33
    • Pruitt, K.D.1    Tatusova, T.2    Maglott, D.R.3
  • 19
    • 0033400946 scopus 로고    scopus 로고
    • MUTbase: maintenance and analysis of distributed mutation databases
    • Riikonen P, Vihinen M. 1999. MUTbase: maintenance and analysis of distributed mutation databases. Bioinformatics 15:852-859.
    • (1999) Bioinformatics , vol.15 , pp. 852-859
    • Riikonen, P.1    Vihinen, M.2
  • 20
    • 0033986099 scopus 로고    scopus 로고
    • Guidelines and recommendations for content, structure, and deployment of mutation databases: ii. journey in progress
    • Scriver CR, Nowacki PM, Lehväslaiho H. 2000. Guidelines and recommendations for content, structure, and deployment of mutation databases: ii. journey in progress. Hum Mutat 15:13-15.
    • (2000) Hum Mutat , vol.15 , pp. 13-15
    • Scriver, C.R.1    Nowacki, P.M.2    Lehväslaiho, H.3
  • 22
    • 58149185118 scopus 로고    scopus 로고
    • Syspimp: the web-based systematical platform for identifying human disease-related mutated sequences from mass spectrometry
    • Xi H, Park J, Ding G, Lee Y, Li Y. 2009. Syspimp: the web-based systematical platform for identifying human disease-related mutated sequences from mass spectrometry. Nucleic Acids Res 37:D913-D920.
    • (2009) Nucleic Acids Res , vol.37
    • Xi, H.1    Park, J.2    Ding, G.3    Lee, Y.4    Li, Y.5
  • 23
    • 78649990385 scopus 로고    scopus 로고
    • G6pd-mutdb: a mutation and phenotype database of glucose-6-phosphate (g6pd) deficiency
    • Zhao X, Li Z, Zhang X. 2010. G6pd-mutdb: a mutation and phenotype database of glucose-6-phosphate (g6pd) deficiency. J Bioinform Comput Biol 8 Suppl 1:101-109.
    • (2010) J Bioinform Comput Biol , vol.8 , Issue.SUPPL. 1 , pp. 101-109
    • Zhao, X.1    Li, Z.2    Zhang, X.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.