메뉴 건너뛰기




Volumn 22, Issue 8, 2012, Pages 219-223

Challenges in Medical Applications of Whole Exome/Genome Sequencing Discoveries

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; CARDIOVASCULAR DISEASE; DNA SEQUENCE; EXOME; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; INHERITANCE; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

EID: 84869019021     PISSN: 10501738     EISSN: 18732615     Source Type: Journal    
DOI: 10.1016/j.tcm.2012.08.001     Document Type: Review
Times cited : (29)

References (20)
  • 1
    • 84863116641 scopus 로고    scopus 로고
    • Truncations of titin causing dilated cardiomyopathy
    • Herman D.S., Lam L., Taylor M.R., et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med 2012, 366:619-628.
    • (2012) N Engl J Med , vol.366 , pp. 619-628
    • Herman, D.S.1    Lam, L.2    Taylor, M.R.3
  • 2
    • 84860817223 scopus 로고    scopus 로고
    • Recent explosive human population growth has resulted in an excess of rare genetic variants
    • Keinan A., Clark A.G. Recent explosive human population growth has resulted in an excess of rare genetic variants. Science 2012, 336:740-743.
    • (2012) Science , vol.336 , pp. 740-743
    • Keinan, A.1    Clark, A.G.2
  • 3
    • 43049143055 scopus 로고    scopus 로고
    • Mapping and sequencing of structural variation from eight human genomes
    • Kidd J.M., Cooper G.M., Donahue W.F., et al. Mapping and sequencing of structural variation from eight human genomes. Nature 2008, 453:56-64.
    • (2008) Nature , vol.453 , pp. 56-64
    • Kidd, J.M.1    Cooper, G.M.2    Donahue, W.F.3
  • 4
    • 84861618864 scopus 로고    scopus 로고
    • Exome sequencing and the genetic basis of complex traits
    • Kiezun A., Garimella K., Do R., et al. Exome sequencing and the genetic basis of complex traits. Nat Genet 2012, 44:623-630.
    • (2012) Nat Genet , vol.44 , pp. 623-630
    • Kiezun, A.1    Garimella, K.2    Do, R.3
  • 5
    • 79959667218 scopus 로고    scopus 로고
    • Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy
    • Klassen T., Davis C., Goldman A., et al. Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell 2011, 145:1036-1048.
    • (2011) Cell , vol.145 , pp. 1036-1048
    • Klassen, T.1    Davis, C.2    Goldman, A.3
  • 6
    • 35348988679 scopus 로고    scopus 로고
    • Paired-end mapping reveals extensive structural variation in the human genome
    • Korbel J.O., Urban A.E., Affourtit J.P., et al. Paired-end mapping reveals extensive structural variation in the human genome. Science 2007, 318:420-426.
    • (2007) Science , vol.318 , pp. 420-426
    • Korbel, J.O.1    Urban, A.E.2    Affourtit, J.P.3
  • 7
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome
    • Lander E.S., Linton L.M., Birren B., et al. Initial sequencing and analysis of the human genome. Nature 2001, 409:860-921.
    • (2001) Nature , vol.409 , pp. 860-921
    • Lander, E.S.1    Linton, L.M.2    Birren, B.3
  • 8
    • 35648976118 scopus 로고    scopus 로고
    • The diploid genome sequence of an individual human
    • Levy S., Sutton G., Ng P.C., et al. The diploid genome sequence of an individual human. PLoS Biol 2007, 5:e254.
    • (2007) PLoS Biol , vol.5
    • Levy, S.1    Sutton, G.2    Ng, P.C.3
  • 9
    • 84863116742 scopus 로고    scopus 로고
    • A systematic survey of loss-of-function variants in human protein-coding genes
    • MacArthur D.G., Balasubramanian S., Frankish A., et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science 2012, 335:823-828.
    • (2012) Science , vol.335 , pp. 823-828
    • MacArthur, D.G.1    Balasubramanian, S.2    Frankish, A.3
  • 10
    • 77449112270 scopus 로고    scopus 로고
    • Nature's genetic gradients and the clinical phenotype
    • Marian A.J. Nature's genetic gradients and the clinical phenotype. Circ Cardiovasc Genet 2009, 2:537-539.
    • (2009) Circ Cardiovasc Genet , vol.2 , pp. 537-539
    • Marian, A.J.1
  • 11
    • 84859917347 scopus 로고    scopus 로고
    • Elements of "missing heritability"
    • Marian A.J. Elements of "missing heritability". Curr Opin Cardiol 2012, 27:197-201.
    • (2012) Curr Opin Cardiol , vol.27 , pp. 197-201
    • Marian, A.J.1
  • 12
    • 79957506175 scopus 로고    scopus 로고
    • Strategic approaches to unraveling genetic causes of cardiovascular diseases
    • Marian A.J., Belmont J. Strategic approaches to unraveling genetic causes of cardiovascular diseases. Circ Res 2011, 108:1252-1269.
    • (2011) Circ Res , vol.108 , pp. 1252-1269
    • Marian, A.J.1    Belmont, J.2
  • 13
    • 79957486466 scopus 로고    scopus 로고
    • Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies
    • Meder B., Haas J., Keller A., et al. Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. Circ Cardiovasc Genet 2011, 4:110-122.
    • (2011) Circ Cardiovasc Genet , vol.4 , pp. 110-122
    • Meder, B.1    Haas, J.2    Keller, A.3
  • 14
    • 84863541347 scopus 로고    scopus 로고
    • An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people
    • Nelson M.R., Wegmann D., Ehm M.G., et al. An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science 2012, 337:100-104.
    • (2012) Science , vol.337 , pp. 100-104
    • Nelson, M.R.1    Wegmann, D.2    Ehm, M.G.3
  • 15
    • 50849127837 scopus 로고    scopus 로고
    • Genetic variation in an individual human exome
    • Ng P.C., Levy S., Huang J., et al. Genetic variation in an individual human exome. PLoS Genet 2008, 4:e1000160.
    • (2008) PLoS Genet , vol.4
    • Ng, P.C.1    Levy, S.2    Huang, J.3
  • 16
    • 78049359286 scopus 로고    scopus 로고
    • 1000 Genomes Project gives new map of genetic diversity
    • Pennisi E. 1000 Genomes Project gives new map of genetic diversity. Science 2010, 330:574-575.
    • (2010) Science , vol.330 , pp. 574-575
    • Pennisi, E.1
  • 17
    • 84860910413 scopus 로고    scopus 로고
    • The predictive capacity of personal genome sequencing
    • 133ra158
    • Roberts N.J., Vogelstein J.T., Parmigiani G., et al. The predictive capacity of personal genome sequencing. Sci Transl Med 2012, 4. 133ra158.
    • (2012) Sci Transl Med , vol.4
    • Roberts, N.J.1    Vogelstein, J.T.2    Parmigiani, G.3
  • 18
    • 84863556835 scopus 로고    scopus 로고
    • Evolution and functional impact of rare coding variation from deep sequencing of human exomes
    • Tennessen J.A., Bigham A.W., O'Connor T.D., et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012, 337:64-69.
    • (2012) Science , vol.337 , pp. 64-69
    • Tennessen, J.A.1    Bigham, A.W.2    O'Connor, T.D.3
  • 19
    • 55549097849 scopus 로고    scopus 로고
    • The diploid genome sequence of an Asian individual
    • Wang J., Wang W., Li R., et al. The diploid genome sequence of an Asian individual. Nature 2008, 456:60-65.
    • (2008) Nature , vol.456 , pp. 60-65
    • Wang, J.1    Wang, W.2    Li, R.3
  • 20
    • 42249087308 scopus 로고    scopus 로고
    • The complete genome of an individual by massively parallel DNA sequencing
    • Wheeler D.A., Srinivasan M., Egholm M., et al. The complete genome of an individual by massively parallel DNA sequencing. Nature 2008, 452:872-876.
    • (2008) Nature , vol.452 , pp. 872-876
    • Wheeler, D.A.1    Srinivasan, M.2    Egholm, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.