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Volumn 19, Issue 40, 2013, Pages 6721-6729

Impact of exome sequencing in inflammatory bowel disease

Author keywords

Exome; Genetics; Inflammatory bowel disease; Sequencing

Indexed keywords

ARTICLE; CROHN DISEASE; DNA HYBRIDIZATION; ENTERITIS; EXOME; FAMILIAL DISEASE; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE; HUMAN; HUMAN GENOME; LINKAGE ANALYSIS; PATIENT; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; ULCERATIVE COLITIS; X CHROMOSOME;

EID: 84887001618     PISSN: 10079327     EISSN: 22192840     Source Type: Journal    
DOI: 10.3748/wjg.v19.i40.6721     Document Type: Article
Times cited : (18)

References (63)
  • 1
    • 1942545071 scopus 로고    scopus 로고
    • Genetics of inflammatory bowel disease
    • 2nd ed. Targan SR, Shanahan F, Karp LC, editors. New York: Springer
    • Taylor KD, Rotter JI, Yang HY. Genetics of inflammatory bowel disease. 2nd ed. Targan SR, Shanahan F, Karp LC, editors. Inflammatory bowel disease: from bench to bedside. New York: Springer, 2005: 21-65
    • (2005) Inflammatory bowel disease: From bench to bedside. , pp. 21-65
    • Taylor, K.D.1    Rotter, J.I.2    Yang, H.Y.3
  • 12
    • 34347344976 scopus 로고    scopus 로고
    • A new multipoint method for genome-wide association studies by imputation of genotypes
    • [PMID: 17572673 DOI: 10.1038/ng2088]
    • Marchini J, Howie B, Myers S, McVean G, Donnelly P. A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet 2007; 39: 906-913 [PMID: 17572673 DOI: 10.1038/ng2088]
    • (2007) Nat Genet , vol.39 , pp. 906-913
    • Marchini, J.1    Howie, B.2    Myers, S.3    McVean, G.4    Donnelly, P.5
  • 17
    • 0035451780 scopus 로고    scopus 로고
    • On the allelic spectrum of human disease
    • [PMID: 11525833]
    • Reich DE, Lander ES. On the allelic spectrum of human disease. Trends Genet 2001; 17: 502-510 [PMID: 11525833]
    • (2001) Trends Genet , vol.17 , pp. 502-510
    • Reich, D.E.1    Lander, E.S.2
  • 18
    • 44349132708 scopus 로고    scopus 로고
    • Common and rare variants in multifactorial susceptibility to common diseases
    • [PMID: 18509313 DOI: 10.1038/ng.f.136]
    • Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 2008; 40: 695-701 [PMID: 18509313 DOI: 10.1038/ng.f.136]
    • (2008) Nat Genet , vol.40 , pp. 695-701
    • Bodmer, W.1    Bonilla, C.2
  • 19
    • 0034969437 scopus 로고    scopus 로고
    • Are rare variants responsible for susceptibility to complex diseases?
    • [PMID: 11404818 DOI: 10.1086/321272]
    • Pritchard JK. Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 2001; 69: 124-137 [PMID: 11404818 DOI: 10.1086/321272]
    • (2001) Am J Hum Genet , vol.69 , pp. 124-137
    • Pritchard, J.K.1
  • 22
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • [PMID: 19451168 DOI: 10.1093/bioinformatics/ btp324]
    • Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009; 25: 1754-1760 [PMID: 19451168 DOI: 10.1093/bioinformatics/ btp324]
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 25
    • 77956534324 scopus 로고    scopus 로고
    • ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
    • [PMID: 20601685 DOI: 10.1093/nar/gkq603]
    • Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010; 38: e164 [PMID: 20601685 DOI: 10.1093/nar/gkq603]
    • (2010) Nucleic Acids Res , vol.38
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 26
    • 0035026704 scopus 로고    scopus 로고
    • Predicting deleterious amino acid substitutions
    • [PMID: 11337480 DOI: 10.1101/gr.176601]
    • Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001; 11: 863-874 [PMID: 11337480 DOI: 10.1101/gr.176601]
    • (2001) Genome Res , vol.11 , pp. 863-874
    • Ng, P.C.1    Henikoff, S.2
  • 27
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • [PMID: 12824425]
    • Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 2003; 31: 3812-3814 [PMID: 12824425]
    • (2003) Nucleic Acids Res , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 30
    • 0032876978 scopus 로고    scopus 로고
    • dbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation
    • [PMID: 10447503]
    • Sherry ST, Ward M, Sirotkin K. dbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation. Genome Res 1999; 9: 677-679 [PMID: 10447503]
    • (1999) Genome Res , vol.9 , pp. 677-679
    • Sherry, S.T.1    Ward, M.2    Sirotkin, K.3
  • 31
    • 84887013854 scopus 로고    scopus 로고
    • Identifying rare variants associated with complex traits via sequencing
    • Chapter 1: Unit 1.26 [PMID: 23853079 DOI: 10.1002/0471142905.hg0126s78]
    • Li B, Liu DJ, Leal SM. Identifying rare variants associated with complex traits via sequencing. Curr Protoc Hum Genet 2013; Chapter 1: Unit 1.26 [PMID: 23853079 DOI: 10.1002/0471142905.hg0126s78]
    • (2013) Curr Protoc Hum Genet
    • Li, B.1    Liu, D.J.2    Leal, S.M.3
  • 36
    • 13944265645 scopus 로고    scopus 로고
    • Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
    • [PMID: 15654334 DOI: 10.1038/ng1509]
    • Cohen J, Pertsemlidis A, Kotowski IK, Graham R, Garcia CK, Hobbs HH. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet 2005; 37: 161-165 [PMID: 15654334 DOI: 10.1038/ng1509]
    • (2005) Nat Genet , vol.37 , pp. 161-165
    • Cohen, J.1    Pertsemlidis, A.2    Kotowski, I.K.3    Graham, R.4    Garcia, C.K.5    Hobbs, H.H.6
  • 39
    • 79952395270 scopus 로고    scopus 로고
    • Cancer genomics: From discovery science to personalized medicine
    • [PMID: 21383744 DOI: 10.1038/nm.2323]
    • Chin L, Andersen JN, Futreal PA. Cancer genomics: from discovery science to personalized medicine. Nat Med 2011; 17: 297-303 [PMID: 21383744 DOI: 10.1038/nm.2323]
    • (2011) Nat Med , vol.17 , pp. 297-303
    • Chin, L.1    Andersen, J.N.2    Futreal, P.A.3
  • 41
    • 61749090233 scopus 로고    scopus 로고
    • Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans
    • [PMID: 19075393 DOI: 10.1172/JCI37118]
    • Romeo S, Yin W, Kozlitina J, Pennacchio LA, Boerwinkle E, Hobbs HH, Cohen JC. Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. J Clin Invest 2009; 119: 70-79 [PMID: 19075393 DOI: 10.1172/JCI37118]
    • (2009) J Clin Invest , vol.119 , pp. 70-79
    • Romeo, S.1    Yin, W.2    Kozlitina, J.3    Pennacchio, L.A.4    Boerwinkle, E.5    Hobbs, H.H.6    Cohen, J.C.7
  • 44
    • 65249131713 scopus 로고    scopus 로고
    • Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
    • [PMID: 19264985 DOI: 10.1126/science.1167728]
    • Nejentsev S, Walker N, Riches D, Egholm M, Todd JA. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 2009; 324: 387-389 [PMID: 19264985 DOI: 10.1126/science.1167728]
    • (2009) Science , vol.324 , pp. 387-389
    • Nejentsev, S.1    Walker, N.2    Riches, D.3    Egholm, M.4    Todd, J.A.5
  • 48
    • 84857641821 scopus 로고    scopus 로고
    • Differential confounding of rare and common variants in spatially structured populations
    • [PMID: 22306651 DOI: 10.1038/ ng.1074]
    • Mathieson I, McVean G. Differential confounding of rare and common variants in spatially structured populations. Nat Genet 2012; 44: 243-246 [PMID: 22306651 DOI: 10.1038/ ng.1074]
    • (2012) Nat Genet , vol.44 , pp. 243-246
    • Mathieson, I.1    McVean, G.2
  • 49
    • 78649775312 scopus 로고    scopus 로고
    • Replication strategies for rare variant complex trait association studies via next-generation sequencing
    • [PMID: 21129725 DOI: 10.1016/j.ajhg.2010.10.025]
    • Liu DJ, Leal SM. Replication strategies for rare variant complex trait association studies via next-generation sequencing. Am J Hum Genet 2010; 87: 790-801 [PMID: 21129725 DOI: 10.1016/j.ajhg.2010.10.025]
    • (2010) Am J Hum Genet , vol.87 , pp. 790-801
    • Liu, D.J.1    Leal, S.M.2
  • 51
    • 33645775067 scopus 로고    scopus 로고
    • An utter refutation of the "fundamental theorem of the HapMap"
    • [PMID: 16479260 DOI: 10.1038/ sj.ejhg.5201583]
    • Terwilliger JD, Hiekkalinna T. An utter refutation of the "fundamental theorem of the HapMap". Eur J Hum Genet 2006; 14: 426-437 [PMID: 16479260 DOI: 10.1038/ sj.ejhg.5201583]
    • (2006) Eur J Hum Genet , vol.14 , pp. 426-437
    • Terwilliger, J.D.1    Hiekkalinna, T.2
  • 52
    • 79958100783 scopus 로고    scopus 로고
    • Adaptive tests for association analysis of rare variants
    • [PMID: 21520272 DOI: 10.1002/gepi.20586]
    • Pan W, Shen X. Adaptive tests for association analysis of rare variants. Genet Epidemiol 2011; 35: 381-388 [PMID: 21520272 DOI: 10.1002/gepi.20586]
    • (2011) Genet Epidemiol , vol.35 , pp. 381-388
    • Pan, W.1    Shen, X.2
  • 53
    • 80051499915 scopus 로고    scopus 로고
    • Rare-variant association testing for sequencing data with the sequence kernel association test
    • [PMID: 21737059 DOI: 10.1016/j.ajhg.2011.05.029]
    • Wu MC, Lee S, Cai T, Li Y, Boehnke M, Lin X. Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet 2011; 89: 82-93 [PMID: 21737059 DOI: 10.1016/j.ajhg.2011.05.029]
    • (2011) Am J Hum Genet , vol.89 , pp. 82-93
    • Wu, M.C.1    Lee, S.2    Cai, T.3    Li, Y.4    Boehnke, M.5    Lin, X.6
  • 54
    • 77953121877 scopus 로고    scopus 로고
    • Pooled association tests for rare variants in exon-resequencing studies
    • [PMID: 20471002 DOI: 10.1016/j.ajhg.2010.04.005]
    • Price AL, Kryukov GV, de Bakker PI, Purcell SM, Staples J, Wei LJ, Sunyaev SR. Pooled association tests for rare variants in exon-resequencing studies. Am J Hum Genet 2010; 86: 832-838 [PMID: 20471002 DOI: 10.1016/j.ajhg.2010.04.005]
    • (2010) Am J Hum Genet , vol.86 , pp. 832-838
    • Price, A.L.1    Kryukov, G.V.2    de Bakker, P.I.3    Purcell, S.M.4    Staples, J.5    Wei, L.J.6    Sunyaev, S.R.7
  • 56
    • 84878829383 scopus 로고    scopus 로고
    • The International IBD Genetics Consortium. Large Sample Size, Wide Variant Spectrum, and Advanced Machine-Learning Technique Boost Risk Prediction for Inflammatory Bowel Disease
    • Epub ahead of print [PMID: 23731541 DOI: 10.1016/j.ajhg.2013.05.002]
    • Wei Z, Wang W, Bradfield J, Li J, Cardinale C, Frackelton E, Kim C, Mentch F, Van Steen K, Visscher PM, Baldassano RN, Hakonarson H; the International IBD Genetics Consortium. Large Sample Size, Wide Variant Spectrum, and Advanced Machine-Learning Technique Boost Risk Prediction for Inflammatory Bowel Disease. Am J Hum Genet 2013; Epub ahead of print [PMID: 23731541 DOI: 10.1016/j.ajhg.2013.05.002]
    • (2013) Am J Hum Genet
    • Wei, Z.1    Wang, W.2    Bradfield, J.3    Li, J.4    Cardinale, C.5    Frackelton, E.6    Kim, C.7    Mentch, F.8    Van Steen, K.9    Visscher, P.M.10    Baldassano, R.N.11    Hakonarson, H.12


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