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Volumn 27, Issue 2, 2006, Pages 195-200

Prioritizing regions of candidate genes for efficient mutation screening

Author keywords

Candidate prioritization; Disease gene identification; Mutation screening

Indexed keywords

ARTICLE; BIOINFORMATICS; CODING; DISEASE ASSOCIATION; EVALUATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MASS SCREENING; PRIORITIZATION OF ANNOTATED REGION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN SECONDARY STRUCTURE; RESOURCE MANAGEMENT;

EID: 32544460594     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20247     Document Type: Article
Times cited : (7)

References (16)
  • 1
    • 13444266370 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
    • Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. 2005. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res 33:0514-0517.
    • (2005) Nucleic Acids Res , vol.33 , pp. 514-517
    • Hamosh, A.1    Scott, A.F.2    Amberger, J.S.3    Bocchini, C.A.4    McKusick, V.A.5
  • 3
    • 0025334980 scopus 로고
    • Improvements in protein secondary structure prediction by an enhanced neural network
    • Kneller DG, Cohen FE, Langridge R. 1990. Improvements in protein secondary structure prediction by an enhanced neural network. J Mol Biol 5;214:171-182.
    • (1990) J Mol Biol , vol.5 , Issue.214 , pp. 171-182
    • Kneller, D.G.1    Cohen, F.E.2    Langridge, R.3
  • 4
    • 0032539612 scopus 로고    scopus 로고
    • Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing
    • Korkko J, Annunen S, Pihlajamaa T, Prockop DJ, Ala-Kokko L. 1998. Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing. Proc Natl Acad Sci USA 17;95:1681-1685.
    • (1998) Proc Natl Acad Sci USA , vol.17 , Issue.95 , pp. 1681-1685
    • Korkko, J.1    Annunen, S.2    Pihlajamaa, T.3    Prockop, D.J.4    Ala-Kokko, L.5
  • 5
    • 0035955361 scopus 로고    scopus 로고
    • An abundant class of tiny RNAs with probable regulatory roles in Caenorhabditis elegans
    • Lau NC, Lim LP, Weinstein EG, Bartel DP. 2001. An abundant class of tiny RNAs with probable regulatory roles in Caenorhabditis elegans. Science 26;294:858-862.
    • (2001) Science , vol.26 , Issue.294 , pp. 858-862
    • Lau, N.C.1    Lim, L.P.2    Weinstein, E.G.3    Bartel, D.P.4
  • 7
    • 0036911605 scopus 로고    scopus 로고
    • Distribution and characterization of regulatory elements in the human genome
    • Majewski J, Ott J. 2002. Distribution and characterization of regulatory elements in the human genome. Genome Res 12:1827-1836.
    • (2002) Genome Res , vol.12 , pp. 1827-1836
    • Majewski, J.1    Ott, J.2
  • 10
    • 0000520709 scopus 로고
    • Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC)
    • Oefner P, Underhill P. 1995. Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC). Am J Hum Genet 57:A266.
    • (1995) Am J Hum Genet , vol.57
    • Oefner, P.1    Underhill, P.2
  • 11
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. 1989. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 12
    • 0033990048 scopus 로고    scopus 로고
    • Primer3 on the WWW for general users and for biologist programmers
    • Krawetz S, Misener S, editors. Totowa, NJ: Humana Press
    • Rozen S, Skaletsky H. 2000. Primer3 on the WWW for general users and for biologist programmers. In:Krawetz S, Misener S, editors. Bioinformatics methods and protocols: methods in molecular biology. Totowa, NJ: Humana Press. p 365-386.
    • (2000) Bioinformatics Methods and Protocols: Methods in Molecular Biology , pp. 365-386
    • Rozen, S.1    Skaletsky, H.2
  • 14
    • 0034191958 scopus 로고    scopus 로고
    • Towards a structural bases of human non-synonymous single nucleotide polymorphisms
    • Sunyaev S, Ramensky V, Bork P. 2000. Towards a structural bases of human non-synonymous single nucleotide polymorphisms. Trends Genet 16:198-200.
    • (2000) Trends Genet , vol.16 , pp. 198-200
    • Sunyaev, S.1    Ramensky, V.2    Bork, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.