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Volumn 2, Issue 2, 2009, Pages 95-97

Editorial: Defining the pathogenicity of DNA sequence variation

Author keywords

Genetic testing; Genetics; Pathogenicity

Indexed keywords

COST EFFECTIVENESS ANALYSIS; DNA SEQUENCE; EDITORIAL; GENE DOSAGE; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOMICS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; METABOLOMICS; PATHOGENICITY; PRIORITY JOURNAL; PROTEOMICS; GENERAL ASPECTS OF DISEASE; GENETICS; GENOTYPE; MEDICAL GENETICS; NOTE; NUCLEOTIDE SEQUENCE; PHENOTYPE; THERAPY;

EID: 77649199509     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.109.864793     Document Type: Editorial
Times cited : (14)

References (22)
  • 1
    • 41149120561 scopus 로고    scopus 로고
    • A Critical Appraisal of the Scientific Basis of Commercial Genomic Profiles Used to Assess Health Risks and Personalize Health Interventions
    • DOI 10.1016/j.ajhg.2007.12.020, PII S0002929708001456
    • Janssens AC, Gwinn M, Bradley LA, Oostra BA, van Duijn CM, Khoury MJ. A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Hum Genet. 2008; 82: 593-599. (Pubitemid 351726114)
    • (2008) American Journal of Human Genetics , vol.82 , Issue.3 , pp. 593-599
    • Janssens, A.C.J.W.1    Gwinn, M.2    Bradley, L.A.3    Oostra, B.A.4    Van Duijn, C.M.5    Khoury, M.J.6
  • 2
    • 0036796263 scopus 로고    scopus 로고
    • Phenotypic diversity in hypertrophic cardiomyopathy
    • Arad M, Seidman JG, Seidman CE. Phenotypic diversity in hypertrophic cardiomyopathy. Hum Mol Genet. 2002; 11: 2499-2506. (Pubitemid 35174714)
    • (2002) Human Molecular Genetics , vol.11 , Issue.20 , pp. 2499-2506
    • Arad, M.1    Seidman, J.G.2    Seidman, C.E.3
  • 3
    • 2642566695 scopus 로고    scopus 로고
    • A probabilistic view of gene function
    • Fraser AG, Marcotte EM. A probabilistic view of gene function. Nat Genet. 2004; 36: 559-564.
    • (2004) Nat. Genet. , vol.36 , pp. 559-564
    • Fraser, A.G.1    Marcotte, E.M.2
  • 4
    • 39749104672 scopus 로고    scopus 로고
    • Ion channel mutations in AF: Signal or noise?
    • Ellinor PT, MacRae CA. Ion channel mutations in AF: signal or noise? Heart Rhythm. 2008; 5: 436-437.
    • (2008) Heart Rhythm , vol.5 , pp. 436-437
    • Ellinor, P.T.1    MacRae, C.A.2
  • 5
    • 75949086359 scopus 로고    scopus 로고
    • Multiple mutations in genetic cardiovascular disease: A marker of disease severity?
    • Kelly M, Semsarian C. Multiple mutations in genetic cardiovascular disease: a marker of disease severity? Circ Cardiovasc Genet. 2009: 2: 182-190.
    • (2009) Circ. Cardiovasc. Genet. , vol.2 , pp. 182-190
    • Kelly, M.1    Semsarian, C.2
  • 6
    • 43049105386 scopus 로고    scopus 로고
    • Cardiac sodium channel overlap syndromes: Different faces of SCN5A mutations
    • Remme CA, Wilde AA, Bezzina CR. Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations. Trends Cardiovasc Med. 2008; 18: 78-87.
    • (2008) Trends Cardiovasc. Med. , vol.18 , pp. 78-87
    • Remme, C.A.1    Wilde, A.A.2    Bezzina, C.R.3
  • 7
    • 0032948848 scopus 로고    scopus 로고
    • A common nonsense mutation results in alpha-actinin-3 deficiency in the general population [1]
    • DOI 10.1038/7675
    • North KN, Yang N, Wattanasirichaigoon D, Mills M, Easteal S, Beggs AH. A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nat Genet. 1999; 21:, 353-254. (Pubitemid 29159565)
    • (1999) Nature Genetics , vol.21 , Issue.4 , pp. 353-354
    • North, K.N.1    Yang, N.2    Wattanasirichaigoon, D.3    Mills, M.4    Easteal, S.5    Beggs, A.H.6
  • 8
    • 58149347486 scopus 로고    scopus 로고
    • Genome-wide association studies: Potential next steps on a genetic journey
    • McCarthy MI, Hirschhorn JN. Genome-wide association studies: potential next steps on a genetic journey. Hum Mol Genet. 2008; 17: R156-R165.
    • (2008) Hum. Mol. Genet. , vol.17
    • McCarthy, M.I.1    Hirschhorn, J.N.2
  • 10
    • 0035257236 scopus 로고    scopus 로고
    • Association study designs for complex diseases
    • DOI 10.1038/35052543
    • Cardon LR, Bell JI. Association study designs for complex diseases. Nat Rev Genet. 2001; 2: 91-99. (Pubitemid 33674000)
    • (2001) Nature Reviews Genetics , vol.2 , Issue.2 , pp. 91-99
    • Cardon, L.R.1    Bell, J.I.2
  • 11
    • 53649106195 scopus 로고    scopus 로고
    • Next-generation DNA sequencing
    • Shendure J, Ji H. Next-generation DNA sequencing. Nat Biotechnol. 2008; 26: 1135-1145.
    • (2008) Nat. Biotechnol. , vol.26 , pp. 1135-1145
    • Shendure, J.1    Ji, H.2
  • 14
    • 0034974176 scopus 로고    scopus 로고
    • Defective ion channel function in the long QT syndrome: Multiple unexpected mechanisms
    • Roden DM. Defective ion channel function in the long QT syndrome: multiple unexpected mechanisms. J Mol Cell Cardiol. 2001; 33: 185-187.
    • (2001) J. Mol. Cell. Cardiol. , vol.33 , pp. 185-187
    • Roden, D.M.1
  • 15
    • 1442306232 scopus 로고    scopus 로고
    • Drug-induced prolongation of the QT interval
    • Roden DM. Drug-induced prolongation of the QT interval. N Engl J Med. 2004; 350: 1013-1022.
    • (2004) N. Engl. J. Med. , vol.350 , pp. 1013-1022
    • Roden, D.M.1
  • 17
    • 55449120805 scopus 로고    scopus 로고
    • Genetic mapping in human disease
    • Altshuler D, Daly MJ, Lander ES. Genetic mapping in human disease. Science. 2008; 322: 881-888.
    • (2008) Science , vol.322 , pp. 881-888
    • Altshuler, D.1    Daly, M.J.2    Lander, E.S.3
  • 19
    • 20944438074 scopus 로고    scopus 로고
    • 'Phenome' project set to pin down subgroups of autism
    • Singer E. "Phenome" project set to pin down subgroups of autism. Nat Med. 2005; 11: 583. (Pubitemid 40868287)
    • (2005) Nature Medicine , vol.11 , Issue.6 , pp. 583
    • Singer, E.1
  • 21
    • 38649138295 scopus 로고    scopus 로고
    • A single gene network accurately predicts phenotypic effects of gene perturbation in Caenorhabditis elegans
    • Lee I, Lehner B, Crombie C, Wong W, Fraser AG, Marcotte EM. A single gene network accurately predicts phenotypic effects of gene perturbation in Caenorhabditis elegans. Nat Genet. 2008; 40: 181-188.
    • (2008) Nat. Genet. , vol.40 , pp. 181-188
    • Lee, I.1    Lehner, B.2    Crombie, C.3    Wong, W.4    Fraser, A.G.5    Marcotte, E.M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.