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Volumn 700, Issue , 2011, Pages 37-46

Identification of causal sequence variants of disease in the next generation sequencing era

Author keywords

Causal variant; Genetics; High throughput sequencing; Human disease

Indexed keywords

DNA;

EID: 79955646758     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-61737-954-3_3     Document Type: Article
Times cited : (13)

References (27)
  • 1
    • 55449120805 scopus 로고    scopus 로고
    • Genetic mapping in human disease
    • Altshuler D, Daly MJ, Lander ES (2008) Genetic mapping in human disease. Science 322:881-888
    • (2008) Science , vol.322 , pp. 881-888
    • Altshuler, D.1    Daly, M.J.2    Lander, E.S.3
  • 2
    • 53649106195 scopus 로고    scopus 로고
    • Next-generation DNA sequencing
    • Shendure J, Ji H (2008) Next-generation DNA sequencing. Nat Biotechnol 26:1135-1145
    • (2008) Nat Biotechnol , vol.26 , pp. 1135-1145
    • Shendure, J.1    Ji, H.2
  • 5
    • 34249935428 scopus 로고    scopus 로고
    • Genetics. Working the (gene count) numbers: Finally, a firm answer
    • Pennisi E (2007) Genetics. Working the (gene count) numbers: finally, a firm answer? Science 316:1113
    • (2007) Science , vol.316 , pp. 1113
    • Pennisi, E.1
  • 7
    • 0037204994 scopus 로고    scopus 로고
    • A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome
    • Mural RJ, Adams MD, Myers EW, Smith HO, Miklos GL, Wides R et al (2002) A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome. Science 296:1661-1671
    • (2002) Science , vol.296 , pp. 1661-1671
    • Mural, R.J.1    Adams, M.D.2    Myers, E.W.3    Smith, H.O.4    Miklos, G.L.5    Wides, R.6
  • 9
    • 24344500211 scopus 로고    scopus 로고
    • Initial sequence of the chimpanzee genome and comparison with the human genome
    • The Chimpanzee Sequencing and Analysis Consortium
    • The Chimpanzee Sequencing and Analysis Consortium (2005) Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437:69-87
    • (2005) Nature , vol.437 , pp. 69-87
  • 12
    • 34249088350 scopus 로고    scopus 로고
    • Genome-wide transcription and the implications for genomic organization
    • Kapranov P, Willingham AT, Gingeras TR (2007) Genome-wide transcription and the implications for genomic organization. Nat Rev Genet 8:413-423
    • (2007) Nat Rev Genet , vol.8 , pp. 413-423
    • Kapranov, P.1    Willingham, A.T.2    Gingeras, T.R.3
  • 13
    • 0026075541 scopus 로고
    • Large-scale and automated DNA sequence determination
    • Hunkapiller T, Kaiser RJ, Koop BF, Hood L (1991) Large-scale and automated DNA sequence determination. Science 254:59-67
    • (1991) Science , vol.254 , pp. 59-67
    • Hunkapiller, T.1    Kaiser, R.J.2    Koop, B.F.3    Hood, L.4
  • 16
    • 13144265739 scopus 로고    scopus 로고
    • Genome-wide association studies: Theoretical and practical concerns
    • Wang WY, Barratt BJ, Clayton DG, Todd JA (2005) Genome-wide association studies: theoretical and practical concerns. Nat Rev Genet 6:109-118
    • (2005) Nat Rev Genet , vol.6 , pp. 109-118
    • Wang, W.Y.1    Barratt, B.J.2    Clayton, D.G.3    Todd, J.A.4
  • 20
    • 67349179787 scopus 로고    scopus 로고
    • Massively parallel exon capture and library-free resequencing across 16 genomes
    • Turner EH, Lee C, Ng SB, Nickerson DA, Shendure J (2009) Massively parallel exon capture and library-free resequencing across 16 genomes. Nat Methods 6:315-316
    • (2009) Nat Methods , vol.6 , pp. 315-316
    • Turner, E.H.1    Lee, C.2    Ng, S.B.3    Nickerson, D.A.4    Shendure, J.5
  • 22
    • 55549097836 scopus 로고    scopus 로고
    • Mapping short DNA sequencing reads and calling variants using mapping quality scores
    • Li H, Ruan J, Durbin R (2008) Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res 18:1851-1858
    • (2008) Genome Res , vol.18 , pp. 1851-1858
    • Li, H.1    Ruan, J.2    Durbin, R.3
  • 23
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • Ramensky V, Bork P, Sunyaev S (2002) Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30:3894-3900
    • (2002) Nucleic Acids Res , vol.30 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 25
    • 65249131713 scopus 로고    scopus 로고
    • Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
    • Nejentsev S, Walker N, Riches D, Egholm M, Todd JA (2009) Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 324:387-389
    • (2009) Science , vol.324 , pp. 387-389
    • Nejentsev, S.1    Walker, N.2    Riches, D.3    Egholm, M.4    Todd, J.A.5
  • 26
    • 42649084334 scopus 로고    scopus 로고
    • Rare independent mutations in renal salt handling genes contribute to blood pressure variation
    • Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB et al (2008) Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 40:592-599
    • (2008) Nat Genet , vol.40 , pp. 592-599
    • Ji, W.1    Foo, J.N.2    O'Roak, B.J.3    Zhao, H.4    Larson, M.G.5    Simon, D.B.6
  • 27
    • 34047177395 scopus 로고    scopus 로고
    • Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL
    • Romeo S, Pennacchio LA, Fu Y, Boerwinkle E, Tybjaerg-Hansen A, Hobbs HH et al (2007) Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat Genet 39:513-516
    • (2007) Nat Genet , vol.39 , pp. 513-516
    • Romeo, S.1    Pennacchio, L.A.2    Fu, Y.3    Boerwinkle, E.4    Tybjaerg-Hansen, A.5    Hobbs, H.H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.