메뉴 건너뛰기




Volumn 32, Issue 14, 2016, Pages 2136-2142

Haplotype synthesis analysis reveals functional variants underlying known genome-wide associated susceptibility loci

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGY; GENE LINKAGE DISEQUILIBRIUM; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPE; HUMAN; NON INSULIN DEPENDENT DIABETES MELLITUS; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84992389431     PISSN: 13674803     EISSN: 14602059     Source Type: Journal    
DOI: 10.1093/bioinformatics/btw125     Document Type: Article
Times cited : (2)

References (33)
  • 1
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1, 092 human genomes
    • 1000 Genomes Project Consortium
    • 1000 Genomes Project Consortium. (2012) An integrated map of genetic variation from 1,092 human genomes. Nature, 491, 56-65.
    • (2012) Nature , vol.491 , pp. 56-65
  • 2
    • 79851468862 scopus 로고    scopus 로고
    • Synthetic associations are unlikely to account for many common disease genome-wide association signals
    • Anderson, C.A. et al. (2011) Synthetic associations are unlikely to account for many common disease genome-wide association signals. PLoS Biol., 9, e1000580.
    • (2011) PLoS Biol. , vol.9 , pp. e1000580
    • Anderson, C.A.1
  • 3
    • 77953233453 scopus 로고    scopus 로고
    • Genome-wide association study of 107 phenotypes in Arabidopsis thaliana inbred lines
    • Atwell, S. et al. (2010) Genome-wide association study of 107 phenotypes in Arabidopsis thaliana inbred lines. Nature, 465, 627-631.
    • (2010) Nature , vol.465 , pp. 627-631
    • Atwell, S.1
  • 4
    • 3042653185 scopus 로고    scopus 로고
    • Maximum-likelihood estimation of haplotype frequencies in nuclear families
    • Becker, T. and Knapp, M. (2004) Maximum-likelihood estimation of haplotype frequencies in nuclear families. Genet. Epidemiol., 27, 21-32.
    • (2004) Genet. Epidemiol. , vol.27 , pp. 21-32
    • Becker, T.1    Knapp, M.2
  • 6
    • 84872040426 scopus 로고    scopus 로고
    • Chapter 11: Genome-wide association studies
    • Bush, W.S. and Moore, J.H. (2012) Chapter 11: genome-wide association studies. PLoS Comput. Biol., 8, e1002822.
    • (2012) PLoS Comput. Biol. , vol.8 , pp. e1002822
    • Bush, W.S.1    Moore, J.H.2
  • 7
    • 84864579680 scopus 로고    scopus 로고
    • Predicting signatures of "synthetic associations" and "natural associations" from empirical patterns of human genetic variation
    • Chang, D. and Keinan, A. (2012) Predicting signatures of "synthetic associations" and "natural associations" from empirical patterns of human genetic variation. PLoS Comput. Biol., 8, e1002600.
    • (2012) PLoS Comput. Biol. , vol.8 , pp. e1002600
    • Chang, D.1    Keinan, A.2
  • 8
    • 84930213392 scopus 로고    scopus 로고
    • Second-generation PLINK: Rising to the challenge of larger and richer datasets
    • Chang, C.C. et al. (2015) Second-generation PLINK: rising to the challenge of larger and richer datasets. GigaScience, 4, 7.
    • (2015) GigaScience , vol.4 , pp. 7
    • Chang, C.C.1
  • 9
    • 84871952176 scopus 로고    scopus 로고
    • Improved whole-chromosome phasing for disease and population genetic studies
    • Deleneau, S.P. et al. (2013) Improved whole-chromosome phasing for disease and population genetic studies. Nat. Methods, 10, 5-6.
    • (2013) Nat. Methods , vol.10 , pp. 5-6
    • Deleneau, S.P.1
  • 10
    • 77249134594 scopus 로고    scopus 로고
    • Rare variants create synthetic genome-wide associations
    • Dickson, S.P. et al. (2010) Rare variants create synthetic genome-wide associations. PLoS Biol., 8, e1000294.
    • (2010) PLoS Biol. , vol.8 , pp. e1000294
    • Dickson, S.P.1
  • 11
    • 84938964578 scopus 로고    scopus 로고
    • Windfalls and pitfalls: Applications of population genetics to the search for disease genes
    • Edge, M.D. et al. (2013) Windfalls and pitfalls: applications of population genetics to the search for disease genes. Evol. Med. Public Health, 254-272.
    • (2013) Evol. Med. Public Health , pp. 254-272
    • Edge, M.D.1
  • 12
    • 0029130796 scopus 로고
    • Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population
    • Excoffier, L. and Slatkin, M. (1995) Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol. Biol. Evol., 12, 921-927.
    • (1995) Mol. Biol. Evol. , vol.12 , pp. 921-927
    • Excoffier, L.1    Slatkin, M.2
  • 13
    • 77949773445 scopus 로고    scopus 로고
    • ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C
    • Fellay, J. et al. (2010) ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. Nature, 464, 405-408.
    • (2010) Nature , vol.464 , pp. 405-408
    • Fellay, J.1
  • 14
    • 78649489009 scopus 로고    scopus 로고
    • Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's Disease susceptibility loci
    • Franke, A. et al. (2010) Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's Disease susceptibility loci. Nat. Genet., 42, 1118-1125.
    • (2010) Nat. Genet. , vol.42 , pp. 1118-1125
    • Franke, A.1
  • 15
    • 65949107547 scopus 로고    scopus 로고
    • Common genetic variation and human traits
    • 1696-1608
    • Goldstein, D.B. (2009) Common genetic variation and human traits. N. Engl. J. Med., 360, 1696-1608.
    • (2009) N. Engl. J. Med. , vol.360
    • Goldstein, D.B.1
  • 16
    • 79851487366 scopus 로고    scopus 로고
    • The importance of synthetic associations will only be resolved empirically
    • Goldstein, D.B. (2011) The importance of synthetic associations will only be resolved empirically. PLoS Biol., 9, e1001008.
    • (2011) PLoS Biol. , vol.9 , pp. e1001008
    • Goldstein, D.B.1
  • 17
    • 13144306071 scopus 로고    scopus 로고
    • Genome-wide association studies for common diseases and complex traits
    • Hirschhorn, J.N. and Daly, M.J. (2005) Genome-wide association studies for common diseases and complex traits. Nat. Rev. Genet., 6, 95-108.
    • (2005) Nat. Rev. Genet. , vol.6 , pp. 95-108
    • Hirschhorn, J.N.1    Daly, M.J.2
  • 18
    • 84868336049 scopus 로고    scopus 로고
    • Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease
    • Jostins, L. et al. (2012) Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature, 1, 119-124.
    • (2012) Nature , vol.1 , pp. 119-124
    • Jostins, L.1
  • 19
    • 84879221281 scopus 로고    scopus 로고
    • Genome-wide association study signal at the 12q12 locus for Crohn's Disease may represent associations with the MUC19 gene
    • Kumar, V. et al. (2013) Genome-wide association study signal at the 12q12 locus for Crohn's Disease may represent associations with the MUC19 gene. Inflamm. Bowel Dis., 19, 1254-1259.
    • (2013) Inflamm. Bowel Dis. , vol.19 , pp. 1254-1259
    • Kumar, V.1
  • 20
    • 33344470090 scopus 로고    scopus 로고
    • PopGen: Population based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships
    • Krawczak, M. et al. (2006) PopGen: population based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships. Commun. Genet., 9, 55-61.
    • (2006) Commun. Genet. , vol.9 , pp. 55-61
    • Krawczak, M.1
  • 21
    • 0028913523 scopus 로고
    • An E-M algorithm and testing strategy for multiplelocus haplotypes
    • Long, J.C. et al. (1995) An E-M algorithm and testing strategy for multiplelocus haplotypes. Am. J. Hum. Genet., 56, 799-810.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 799-810
    • Long, J.C.1
  • 22
    • 84895868553 scopus 로고    scopus 로고
    • Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type2 diabetes susceptibility
    • Mahajan, A. et al. (2014) Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type2 diabetes susceptibility. Nat. Genet., 46, 234-244.
    • (2014) Nat. Genet. , vol.46 , pp. 234-244
    • Mahajan, A.1
  • 23
    • 84855853297 scopus 로고    scopus 로고
    • Molecular genetic studies of complex phenotypes
    • Marian, A.J. (2012) Molecular genetic studies of complex phenotypes. Transl. Res., 159, 64-79.
    • (2012) Transl. Res. , vol.159 , pp. 64-79
    • Marian, A.J.1
  • 24
    • 84991502822 scopus 로고    scopus 로고
    • A reference panel of 64,976 haplotypes for genotype imputation
    • McCarthy, S. (2015) A reference panel of 64,976 haplotypes for genotype imputation. BioRXiv: Preprint Server Biol., 1-24.
    • (2015) BioRXiv: Preprint Server Biol. , pp. 1-24
    • McCarthy, S.1
  • 25
    • 78149436551 scopus 로고    scopus 로고
    • Synthetic associations in the context of genome-wide association scan signals
    • Orozco, G. et al. (2010) Synthetic associations in the context of genome-wide association scan signals. Hum. Mol. Genet., 19, R137-R144.
    • (2010) Hum. Mol. Genet. , vol.19 , pp. R137-R144
    • Orozco, G.1
  • 26
    • 78951470427 scopus 로고    scopus 로고
    • Conditions under which genome-wide association studies will be positively misleading
    • Platt, A. et al. (2010) Conditions under which genome-wide association studies will be positively misleading. Genetics, 186, 1045-1052.
    • (2010) Genetics , vol.186 , pp. 1045-1052
    • Platt, A.1
  • 27
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: A tool set for whole-genome association and population-based linkage analyses
    • Purcell, S. et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet., 81, 559-575.
    • (2007) Am. J. Hum. Genet. , vol.81 , pp. 559-575
    • Purcell, S.1
  • 28
    • 78649502323 scopus 로고    scopus 로고
    • Investigation of a genome wide association signal for obesity: Synthetic association and haplotype analyses at the melanocortin 4 receptor gene locus
    • Scherag, A. et al. (2010) Investigation of a genome wide association signal for obesity: synthetic association and haplotype analyses at the melanocortin 4 receptor gene locus. PLoS One, 5, e13967.
    • (2010) PLoS One , vol.5 , pp. e13967
    • Scherag, A.1
  • 29
    • 63449117825 scopus 로고    scopus 로고
    • A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose
    • Takeuchi, F. et al. (2009) A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose. PLoS Genet., 5, e1000433.
    • (2009) PLoS Genet. , vol.5 , pp. e1000433
    • Takeuchi, F.1
  • 30
    • 79959870865 scopus 로고    scopus 로고
    • Detection of common single nucleotide polymorphisms synthesizing quantitative trait association of rarer causal variants
    • Takeuchi, F. et al. (2011) Detection of common single nucleotide polymorphisms synthesizing quantitative trait association of rarer causal variants. Genome Res., 21, 1122-1130.
    • (2011) Genome Res. , vol.21 , pp. 1122-1130
    • Takeuchi, F.1
  • 31
    • 33947227273 scopus 로고    scopus 로고
    • Association of warfarin dose with genes involved in its action and metabolism
    • Wadelius, M. et al. (2007) Association of warfarin dose with genes involved in its action and metabolism. Hum. Genet., 121, 23-34.
    • (2007) Hum. Genet. , vol.121 , pp. 23-34
    • Wadelius, M.1
  • 32
    • 77951974619 scopus 로고    scopus 로고
    • Interpretation of association signals and identification of causal variants from genome-wide association studies
    • Wang, K. et al. (2010) Interpretation of association signals and identification of causal variants from genome-wide association studies. Am. J. Hum. Genet., 86, 730-742.
    • (2010) Am. J. Hum. Genet. , vol.86 , pp. 730-742
    • Wang, K.1
  • 33
    • 79851487367 scopus 로고    scopus 로고
    • Synthetic associations created by rare variants do not explain mostGWAS results
    • Wray, N.R. et al. (2011) Synthetic associations created by rare variants do not explain mostGWAS results. PLoS Biol., 9, e1000579.
    • (2011) PLoS Biol. , vol.9 , pp. e1000579
    • Wray, N.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.