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Volumn 57, Issue 23, 2011, Pages 2328-2329

Hearing the noise: The challenges of human genome variation in genetic testing

Author keywords

arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia; diagnosis; genetic testing; mutation

Indexed keywords

BIOTECHNOLOGY; CARDIOMYOPATHY; DNA SEQUENCE; EDITORIAL; GENE DELETION; GENE INSERTION; GENETIC DISORDER; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; HEART ARRHYTHMIA; HEART RIGHT VENTRICLE CARDIOMYOPATHY; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; HUMAN GENOME; HUMAN GENOME PROJECT; LONG QT SYNDROME; MISSENSE MUTATION; MOLECULAR GENETICS; NONSENSE MUTATION; POPULATION GENETICS; PRIORITY JOURNAL;

EID: 79958015211     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2011.02.026     Document Type: Editorial
Times cited : (9)

References (7)
  • 1
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    • A map of human genome variation from population-scale sequencing
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    • The 1000 Genomes Project Consortium A map of human genome variation from population-scale sequencing Nature 467 2010 1061 1073
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  • 2
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologiesthe next generation
    • M.L. Metzker Sequencing technologiesthe next generation Nature Rev Genet 11 2010 31 46
    • (2010) Nature Rev Genet , vol.11 , pp. 31-46
    • Metzker, M.L.1
  • 3
    • 79957975773 scopus 로고    scopus 로고
    • Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia- associated mutations from background genetic noise
    • J.D. Kapplinger, A.P. Landstrom, and B.A. Salisbury Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise J Am Coll Cardiol 57 2011 2317 2327
    • (2011) J Am Coll Cardiol , vol.57 , pp. 2317-2327
    • Kapplinger, J.D.1    Landstrom, A.P.2    Salisbury, B.A.3
  • 4
    • 70449359365 scopus 로고    scopus 로고
    • Genetic testing for long-QT syndrome: Distinguishing pathogenic mutations from benign variants
    • S. Kapa, D.J. Tester, and B.A. Salisbury Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants Circulation 120 2009 1752 1760
    • (2009) Circulation , vol.120 , pp. 1752-1760
    • Kapa, S.1    Tester, D.J.2    Salisbury, B.A.3
  • 5
    • 70449337420 scopus 로고    scopus 로고
    • Closer look at genetic testing in long-QT syndrome: Will DNA diagnostics ever be enough?
    • C.A. MacRae Closer look at genetic testing in long-QT syndrome: will DNA diagnostics ever be enough? Circulation 120; 2009 1745 1748
    • (2009) Circulation , vol.120 , pp. 1745-1748
    • MacRae, C.A.1
  • 7
    • 78751488744 scopus 로고    scopus 로고
    • National Center for Biotechnology Information
    • National Center for Biotechnology Information GeneTests http://www.genetests.org Accessed December 19, 2010
    • GeneTests


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.