메뉴 건너뛰기




Volumn 48, Issue 3, 2016, Pages 314-317

Weighting sequence variants based on their annotation increases power of whole-genome association studies

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ENHANCER REGION; EPIGENETICS; EVOLUTIONARY RATE; EXOME; GENETIC ASSOCIATION; GENETIC VARIABILITY; HERITABILITY; HUMAN; ICELAND; ICELANDER; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; QUANTITATIVE TRAIT; START CODON; DNA SEQUENCE; EPIDEMIOLOGY; GENETICS; GENOME-WIDE ASSOCIATION STUDY; MOLECULAR GENETICS; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICS AND NUMERICAL DATA;

EID: 84959575456     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3507     Document Type: Article
Times cited : (150)

References (35)
  • 1
    • 67249117049 scopus 로고    scopus 로고
    • Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
    • Hindorff L.A., et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl. Acad. Sci. USA 106, 9362-9367 (2009
    • (2009) Proc. Natl. Acad. Sci. USA , vol.106 , pp. 9362-9367
    • Hindorff, L.A.1
  • 2
    • 84891790401 scopus 로고    scopus 로고
    • The nhgri gwas catalog, a curated resource of snp-trait associations
    • Welter D., et al. The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Res. 42, D1001-D1006 (2014
    • (2014) Nucleic Acids Res , vol.42 , pp. D1001-D1006
    • Welter, D.1
  • 3
    • 84929132687 scopus 로고    scopus 로고
    • Large-scale whole-genome sequencing of the icelandic population
    • Gudbjartsson D.F., et al. Large-scale whole-genome sequencing of the Icelandic population. Nat. Genet. 47, 435-444 (2015
    • (2015) Nat. Genet , vol.47 , pp. 435-444
    • Gudbjartsson, D.F.1
  • 4
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • 1000 Genomes Project Consortium
    • 1000 Genomes Project Consortium. An integrated map of genetic variation from 1,092 human genomes. Nature 491, 56-65 (2012
    • (2012) Nature , vol.491 , pp. 56-65
  • 5
    • 43249125992 scopus 로고    scopus 로고
    • Estimation of the multiple testing burden for genomewide association studies of nearly all common variants
    • Pe'er I., Yelensky R., Altshuler D., & Daly M.J. Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet. Epidemiol. 32, 381-385 (2008
    • (2008) Genet. Epidemiol , vol.32 , pp. 381-385
    • Pe'er, I.1    Yelensky, R.2    Altshuler, D.3    Daly, M.J.4
  • 6
    • 79959503826 scopus 로고    scopus 로고
    • The international hapmap project
    • International HapMap Consortium. The International HapMap Project. Nature 426, 789-796 (2003
    • (2003) Nature , vol.426 , pp. 789-796
    • HapMap Consortium, I.1
  • 7
    • 84905579746 scopus 로고    scopus 로고
    • Whole-genome sequence variation, population structure and demographic history of the Dutch population
    • Genome of the Netherlands Consortium
    • Genome of the Netherlands Consortium. Whole-genome sequence variation, population structure and demographic history of the Dutch population. Nat. Genet. 46, 818-825 (2014
    • (2014) Nat. Genet , vol.46 , pp. 818-825
  • 8
    • 84943171338 scopus 로고    scopus 로고
    • A global reference for human genetic variation
    • 1000 Genomes Project Consortium
    • 1000 Genomes Project Consortium. A global reference for human genetic variation. Nature 526, 68-74 (2015
    • (2015) Nature , vol.526 , pp. 68-74
  • 9
    • 84898786106 scopus 로고    scopus 로고
    • Statistical power and significance testing in large-scale genetic studies
    • Sham P.C., & Purcell S.M. Statistical power and significance testing in large-scale genetic studies. Nat. Rev. Genet. 15, 335-346 (2014
    • (2014) Nat. Rev. Genet , vol.15 , pp. 335-346
    • Sham, P.C.1    Purcell, S.M.2
  • 10
    • 7444227970 scopus 로고    scopus 로고
    • Coding single-nucleotide polymorphisms associated with complex vs mendelian disease: Evolutionary evidence for differences in molecular effects
    • Thomas P.D., & Kejariwal A. Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects. Proc. Natl. Acad. Sci. USA 101, 15398-15403 (2004
    • (2004) Proc. Natl. Acad. Sci. USA , vol.101 , pp. 15398-15403
    • Thomas, P.D.1    Kejariwal, A.2
  • 11
    • 84876847154 scopus 로고    scopus 로고
    • All snps are not created equal: Genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated snps
    • Schork A.J., et al. All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs. PLoS Genet. 9, e1003449 (2013
    • (2013) Plos Genet , vol.9 , pp. e1003449
    • Schork, A.J.1
  • 12
    • 79957588287 scopus 로고    scopus 로고
    • Genome partitioning of genetic variation for complex traits using common SNPs
    • Yang J., et al. Genome partitioning of genetic variation for complex traits using common SNPs. Nat. Genet. 43, 519-525 (2011
    • (2011) Nat. Genet , vol.43 , pp. 519-525
    • Yang, J.1
  • 13
    • 84872420943 scopus 로고    scopus 로고
    • Importance of different types of prior knowledge in selecting genome-wide findings for follow-up
    • Minelli C., et al. Importance of different types of prior knowledge in selecting genome-wide findings for follow-up. Genet. Epidemiol. 37, 205-213 (2013
    • (2013) Genet. Epidemiol , vol.37 , pp. 205-213
    • Minelli, C.1
  • 14
    • 84925935394 scopus 로고    scopus 로고
    • Rare mutations associating with serum creatinine and chronic kidney disease
    • Sveinbjornsson G., et al. Rare mutations associating with serum creatinine and chronic kidney disease. Hum. Mol. Genet. 23, 6935-6943 (2014
    • (2014) Hum. Mol. Genet , vol.23 , pp. 6935-6943
    • Sveinbjornsson, G.1
  • 15
    • 77955405475 scopus 로고    scopus 로고
    • Deriving the consequences of genomic variants with the ensembl api and snp effect predictor
    • McLaren W., et al. Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics 26, 2069-2070 (2010
    • (2010) Bioinformatics , vol.26 , pp. 2069-2070
    • McLaren, W.1
  • 16
    • 22044443709 scopus 로고    scopus 로고
    • The sequence ontology: A tool for the unification of genome annotations
    • Eilbeck K., et al. The Sequence Ontology: a tool for the unification of genome annotations. Genome Biol. 6, R44 (2005
    • (2005) Genome Biol , vol.6 , pp. R44
    • Eilbeck, K.1
  • 17
    • 84865790047 scopus 로고    scopus 로고
    • An integrated encyclopedia of DNA elements in the human genome
    • ENCODE Project Consortium
    • ENCODE Project Consortium. An integrated encyclopedia of DNA elements in the human genome. Nature 489, 57-74 (2012
    • (2012) Nature , vol.489 , pp. 57-74
  • 18
    • 84865822182 scopus 로고    scopus 로고
    • Systematic localization of common disease-associated variation in regulatory DNA
    • Maurano M.T., et al. Systematic localization of common disease-associated variation in regulatory DNA. Science 337, 1190-1195 (2012
    • (2012) Science , vol.337 , pp. 1190-1195
    • Maurano, M.T.1
  • 19
    • 84923362619 scopus 로고    scopus 로고
    • Integrative analysis of 111 reference human epigenomes
    • Roadmap Epigenomics Consortium
    • Roadmap Epigenomics Consortium. Integrative analysis of 111 reference human epigenomes. Nature 518, 317-330 (2015
    • (2015) Nature , vol.518 , pp. 317-330
  • 20
    • 84922273141 scopus 로고    scopus 로고
    • Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases
    • Gusev A., et al. Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. Am. J. Hum. Genet. 95, 535-552 (2014
    • (2014) Am. J. Hum. Genet , vol.95 , pp. 535-552
    • Gusev, A.1
  • 21
    • 84857707318 scopus 로고    scopus 로고
    • Chromhmm: Automating chromatin-state discovery and characterization
    • Ernst J., & Kellis M. ChromHMM: automating chromatin-state discovery and characterization. Nat. Methods 9, 215-216 (2012
    • (2012) Nat. Methods , vol.9 , pp. 215-216
    • Ernst, J.1    Kellis, M.2
  • 22
    • 22244452677 scopus 로고    scopus 로고
    • Distribution and intensity of constraint in mammalian genomic sequence
    • Cooper G.M., et al. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res. 15, 901-913 (2005
    • (2005) Genome Res , vol.15 , pp. 901-913
    • Cooper, G.M.1
  • 23
    • 77649255315 scopus 로고    scopus 로고
    • Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes
    • Goode D.L., et al. Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes. Genome Res. 20, 301-310 (2010
    • (2010) Genome Res , vol.20 , pp. 301-310
    • Goode, D.L.1
  • 24
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • Kircher M., et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nat. Genet. 46, 310-315 (2014
    • (2014) Nat. Genet , vol.46 , pp. 310-315
    • Kircher, M.1
  • 25
    • 84898723939 scopus 로고    scopus 로고
    • Joint analysis of functional genomic data and genome-wide association studies of 18 human traits
    • Pickrell J.K. Joint analysis of functional genomic data and genome-wide association studies of 18 human traits. Am. J. Hum. Genet. 94, 559-573 (2014
    • (2014) Am. J. Hum. Genet , vol.94 , pp. 559-573
    • Pickrell, J.K.1
  • 26
    • 84901695827 scopus 로고    scopus 로고
    • Functional annotation signatures of disease susceptibility loci improve SNP association analysis
    • Iversen E.S., Lipton G., Clyde M.A., & Monteiro A.N. Functional annotation signatures of disease susceptibility loci improve SNP association analysis. BMC Genomics 15, 398 (2014
    • (2014) BMC Genomics , vol.15 , pp. 398
    • Iversen, E.S.1    Lipton, G.2    Clyde, M.A.3    Monteiro, A.N.4
  • 27
    • 84908324508 scopus 로고    scopus 로고
    • Integrating functional data to prioritize causal variants in statistical fine-mapping studies
    • Kichaev G., et al. Integrating functional data to prioritize causal variants in statistical fine-mapping studies. PLoS Genet. 10, e1004722 (2014
    • (2014) Plos Genet , vol.10 , pp. e1004722
    • Kichaev, G.1
  • 28
    • 77955169164 scopus 로고    scopus 로고
    • Genome-wide significance levels and weighted hypothesis testing
    • Roeder K., & Wasserman L. Genome-wide significance levels and weighted hypothesis testing. Stat. Sci. 24, 398-413 (2009
    • (2009) Stat. Sci , vol.24 , pp. 398-413
    • Roeder, K.1    Wasserman, L.2
  • 29
    • 31544449191 scopus 로고    scopus 로고
    • Using linkage genome scans to improve power of association in genome scans
    • Roeder K., Bacanu S.A., Wasserman L., & Devlin B. Using linkage genome scans to improve power of association in genome scans. Am. J. Hum. Genet. 78, 243-252 (2006
    • (2006) Am. J. Hum. Genet , vol.78 , pp. 243-252
    • Roeder, K.1    Bacanu, S.A.2    Wasserman, L.3    Devlin, B.4
  • 30
    • 33750168129 scopus 로고    scopus 로고
    • False discovery control with p-value weighting
    • Genovese C.R., Roeder K., & Wasserman L. False discovery control with p-value weighting. Biometrika 93, 509-524 (2006
    • (2006) Biometrika , vol.93 , pp. 509-524
    • Genovese, C.R.1    Roeder, K.2    Wasserman, L.3
  • 31
    • 84891749517 scopus 로고    scopus 로고
    • The human phenotype ontology project: Linking molecular biology and disease through phenotype data
    • Köhler S., et al. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res. 42, D966-D974 (2014
    • (2014) Nucleic Acids Res , vol.42 , pp. D966-D974
    • Köhler, S.1
  • 32
    • 85000443086 scopus 로고    scopus 로고
    • Partitioning heritability by functional annotation using genome-wide association summary statistics
    • Finucane H.K., et al. Partitioning heritability by functional annotation using genome-wide association summary statistics. Nat. Genet. 47, 1228-1235 (2015
    • (2015) Nat. Genet , vol.47 , pp. 1228-1235
    • Finucane, H.K.1
  • 33
    • 52949095721 scopus 로고    scopus 로고
    • Common variants of FUT2 are associated with plasma vitamin B12 levels
    • Hazra A., et al. Common variants of FUT2 are associated with plasma vitamin B12 levels. Nat. Genet. 40, 1160-1162 (2008
    • (2008) Nat. Genet , vol.40 , pp. 1160-1162
    • Hazra, A.1
  • 34
    • 0000238336 scopus 로고
    • A simplex method for function minimization
    • Nelder J.A., & Mead R. A simplex method for function minimization. Comput. J. 7, 308-313 (1965
    • (1965) Comput. J. , vol.7 , pp. 308-313
    • Nelder, J.A.1    Mead, R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.