메뉴 건너뛰기




Volumn 19, Issue 8, 2018, Pages 491-504

From genome-wide associations to candidate causal variants by statistical fine-mapping

Author keywords

[No Author keywords available]

Indexed keywords

GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENETIC VARIABILITY; GENOME-WIDE ASSOCIATION STUDY; GENOMIC ANNOTATION; GENOMICS; GENOTYPE; HUMAN; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; ALLELE; CHROMOSOMAL MAPPING; PROCEDURES;

EID: 85047832663     PISSN: 14710056     EISSN: 14710064     Source Type: Journal    
DOI: 10.1038/s41576-018-0016-z     Document Type: Review
Times cited : (594)

References (121)
  • 1
    • 65949104586 scopus 로고    scopus 로고
    • Genomewide association studies and human disease
    • Hardy, J. &Singleton, A. Genomewide association studies and human disease. N. Engl. J. Med. 360, 1759-1768 (2009).
    • (2009) N. Engl. J. Med. , vol.360 , pp. 1759-1768
    • Hardy, J.1    Singleton, A.2
  • 2
    • 84969213492 scopus 로고    scopus 로고
    • Genomewide association study of 14,000 cases of seven common diseases and 3,000 shared controls
    • Wellcome Trust Case Control Consortium
    • Wellcome Trust Case Control Consortium. Genomewide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447, 661-678 (2007).
    • (2007) Nature , vol.447 , pp. 661-678
  • 3
    • 77954140531 scopus 로고    scopus 로고
    • Common SNPs explain a large proportion of the heritability for human height
    • Yang, J. et al. Common SNPs explain a large proportion of the heritability for human height. Nat. Genet. 42, 565-569 (2010).
    • (2010) Nat. Genet. , vol.42 , pp. 565-569
    • Yang, J.1
  • 4
    • 84887099827 scopus 로고    scopus 로고
    • Discovery and refinement of loci associated with lipid levels
    • Willer, C. J. et al. Discovery and refinement of loci associated with lipid levels. Nat. Genet. 45, 1274-1283 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 1274-1283
    • Willer, C.J.1
  • 5
    • 84942987885 scopus 로고    scopus 로고
    • A comprehensive 1,000 Genomesbased genome-wide association meta-analysis of coronary artery disease
    • Nikpay, M. et al. A comprehensive 1,000 Genomesbased genome-wide association meta-analysis of coronary artery disease. Nat. Genet. 47, 1121-1130 (2015).
    • (2015) Nat. Genet. , vol.47 , pp. 1121-1130
    • Nikpay, M.1
  • 6
    • 84922011640 scopus 로고    scopus 로고
    • A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer
    • Al Olama, A. A. et al. A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. Nat. Genet. 46, 1103-1109 (2014).
    • (2014) Nat. Genet. , vol.46 , pp. 1103-1109
    • Al Olama, A.A.1
  • 7
    • 84978128486 scopus 로고    scopus 로고
    • The genetic architecture of type 2 diabetes
    • Fuchsberger, C. et al. The genetic architecture of type 2 diabetes. Nature 536, 41-47 (2016).
    • (2016) Nature , vol.536 , pp. 41-47
    • Fuchsberger, C.1
  • 8
    • 84904804929 scopus 로고    scopus 로고
    • Biological insights from 108 schizophrenia-associated genetic loci
    • Schizophrenia Working Group of the Psychiatric Genomics Consortium
    • Schizophrenia Working Group of the Psychiatric Genomics Consortium. Biological insights from 108 schizophrenia-associated genetic loci. Nature 511, 421-427 (2014).
    • (2014) Nature , vol.511 , pp. 421-427
  • 9
    • 85016161935 scopus 로고    scopus 로고
    • The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
    • MacArthur, J. et al. The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). Nucleic Acids Res. 45, D896-D901 (2017).
    • (2017) Nucleic Acids Res. , vol.45 , pp. D896-D901
    • MacArthur, J.1
  • 10
    • 84899476119 scopus 로고    scopus 로고
    • Guidelines for investigating causality of sequence variants in human disease
    • MacArthur, D. G. et al. Guidelines for investigating causality of sequence variants in human disease. Nature 508, 469-476 (2014).
    • (2014) Nature , vol.508 , pp. 469-476
    • MacArthur, D.G.1
  • 11
    • 33846283432 scopus 로고    scopus 로고
    • Methods for the selection of tagging SNPs: A comparison of tagging efficiency and performance
    • Ding, K. &Kullo, I. J. Methods for the selection of tagging SNPs: a comparison of tagging efficiency and performance. Eur. J. Hum. Genet. 15, 228-236 (2007).
    • (2007) Eur. J. Hum. Genet. , vol.15 , pp. 228-236
    • Ding, K.1    Kullo, I.J.2
  • 12
    • 10044235010 scopus 로고    scopus 로고
    • Tag SNP selection for association studies
    • Stram, D. Tag SNP selection for association studies. Genet. Epidemiol. 27, 365-374 (2004).
    • (2004) Genet. Epidemiol. , vol.27 , pp. 365-374
    • Stram, D.1
  • 13
    • 84943805735 scopus 로고    scopus 로고
    • Strategies for finemapping complex traits
    • Spain, S. L. &Barrett, J. C. Strategies for finemapping complex traits. Hum. Mol. Genet. 24, R111-R119 (2015).
    • (2015) Hum. Mol. Genet. , vol.24 , pp. R111-R119
    • Spain, S.L.1    Barrett, J.C.2
  • 14
    • 84994748491 scopus 로고    scopus 로고
    • Dissecting the genetics of complex traits using summary association statistics
    • This paper reviews the developments and progress of using summary statistics from genetic association studies to perform joint analyses of genetic variants for use in fine-mapping and to perform transcription-wide association studies (TWAS)
    • Pasaniuc, B. &Price, A. L. Dissecting the genetics of complex traits using summary association statistics. Nat. Rev. Genet. 18, 117-127 (2017). This paper reviews the developments and progress of using summary statistics from genetic association studies to perform joint analyses of genetic variants for use in fine-mapping and to perform transcription-wide association studies (TWAS).
    • (2017) Nat. Rev. Genet. , vol.18 , pp. 117-127
    • Pasaniuc, B.1    Price, A.L.2
  • 15
    • 77956586071 scopus 로고    scopus 로고
    • LocusZoom: Regional visualization of genome-wide association scan results
    • Pruim, R. J. et al. LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics 26, 2336-2337 (2010).
    • (2010) Bioinformatics , vol.26 , pp. 2336-2337
    • Pruim, R.J.1
  • 16
    • 77954407332 scopus 로고    scopus 로고
    • Genomewide association studies and assessment of the risk of disease
    • Manolio, T. A. Genomewide association studies and assessment of the risk of disease. N. Engl. J. Med. 363, 166-176 (2010).
    • (2010) N. Engl. J. Med. , vol.363 , pp. 166-176
    • Manolio, T.A.1
  • 17
    • 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
  • 18
    • 85000605855 scopus 로고    scopus 로고
    • Evaluating the performance of fine-mapping strategies at common variant GWAS loci
    • Based on extensive simulations, this paper evaluates various factors that influence statistical fine-mapping and provides guidance on the design of fine-mapping studies
    • van de Bunt, M., Cortes, A., Brown, M. A., Morris, A. P. &McCarthy, M. I. Evaluating the performance of fine-mapping strategies at common variant GWAS loci. PLoS Genet. 11, e1005535 (2015). Based on extensive simulations, this paper evaluates various factors that influence statistical fine-mapping and provides guidance on the design of fine-mapping studies.
    • (2015) PLoS Genet. , vol.11 , pp. e1005535
    • Van De Bunt, M.1    Cortes, A.2    Brown, M.A.3    Morris, A.P.4    McCarthy, M.I.5
  • 19
    • 31544447999 scopus 로고    scopus 로고
    • Ranks of genuine associations in whole-genome scans
    • Zaykin, D. V. &Zhivotovsky, L. A. Ranks of genuine associations in whole-genome scans. Genetics 171, 813-823 (2005).
    • (2005) Genetics , vol.171 , pp. 813-823
    • Zaykin, D.V.1    Zhivotovsky, L.A.2
  • 20
    • 0023430504 scopus 로고
    • Gametic disequilibrium measures: Proceed with caution
    • Hedrick, P. W. Gametic disequilibrium measures: proceed with caution. Genetics 117, 331-341 (1987).
    • (1987) Genetics , vol.117 , pp. 331-341
    • Hedrick, P.W.1
  • 21
    • 0029150074 scopus 로고
    • A comparison of linkage diequilibrium measures for fine-scale mapping
    • Devlin, B. &Risch, N. A comparison of linkage diequilibrium measures for fine-scale mapping. Genomics 29, 311-322 (1995).
    • (1995) Genomics , vol.29 , pp. 311-322
    • Devlin, B.1    Risch, N.2
  • 22
    • 0033863391 scopus 로고    scopus 로고
    • SNPing away at complex diseases: Analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease
    • Martin, E. R. et al. SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease. Am. J. Hum. Genet. 67, 383-394 (2000).
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 383-394
    • Martin, E.R.1
  • 23
    • 84867386549 scopus 로고    scopus 로고
    • TOMM40 association with Alzheimer disease: Tales of APOE and linkage disequilibrium
    • Guerreiro, R. J. &Hardy, J. TOMM40 association with Alzheimer disease: tales of APOE and linkage disequilibrium. Arch. Neurol. 69, 1243-1244 (2012).
    • (2012) Arch. Neurol. , vol.69 , pp. 1243-1244
    • Guerreiro, R.J.1    Hardy, J.2
  • 24
    • 43749105558 scopus 로고    scopus 로고
    • Linkage disequilibrium - Understanding the evolutionary past and mapping the medical future
    • Slatkin, M. Linkage disequilibrium - understanding the evolutionary past and mapping the medical future. Nat. Rev. Genet. 9, 477-485 (2008).
    • (2008) Nat. Rev. Genet. , vol.9 , pp. 477-485
    • Slatkin, M.1
  • 25
    • 77953808087 scopus 로고    scopus 로고
    • Genotype imputation for genome-wide association studies
    • Marchini, J. &Howie, B. Genotype imputation for genome-wide association studies. Nat. Rev. Genet. 11, 499-511 (2010).
    • (2010) Nat. Rev. Genet. , vol.11 , pp. 499-511
    • Marchini, J.1    Howie, B.2
  • 27
    • 84943171338 scopus 로고    scopus 로고
    • A global reference for human genetic variation
    • The Genomes Project Consortium
    • The Genomes Project Consortium. A global reference for human genetic variation. Nature 526, 68-74 (2015).
    • (2015) Nature , vol.526 , pp. 68-74
  • 28
    • 84983479616 scopus 로고    scopus 로고
    • A reference panel of 64,976 haplotypes for genotype imputation
    • McCarthy, S. et al. A reference panel of 64,976 haplotypes for genotype imputation. Nat. Genet. 48, 1279-1283 (2016).
    • (2016) Nat. Genet. , vol.48 , pp. 1279-1283
    • McCarthy, S.1
  • 29
    • 79955760905 scopus 로고    scopus 로고
    • The effect of genome-wide association scan quality control on imputation outcome for common variants
    • Southam, L. et al. The effect of genome-wide association scan quality control on imputation outcome for common variants. Eur. J. Hum. Genet. 19, 610-614 (2011).
    • (2011) Eur. J. Hum. Genet. , vol.19 , pp. 610-614
    • Southam, L.1
  • 30
    • 85024387670 scopus 로고    scopus 로고
    • Fine-mapping inflammatory bowel disease loci to single-variant resolution
    • This paper applies three complementary Bayesian fine-mapping methods to a large data set and nicely illustrates novel methods and their interpretations, along with strategies for using annotation to interpret fine-mapping results. The supplemental material is particularly informative for computational strategies for Bayesian fine-mapping
    • Huang, H. et al. Fine-mapping inflammatory bowel disease loci to single-variant resolution. Nature 547, 173-178 (2017). This paper applies three complementary Bayesian fine-mapping methods to a large data set and nicely illustrates novel methods and their interpretations, along with strategies for using annotation to interpret fine-mapping results. The supplemental material is particularly informative for computational strategies for Bayesian fine-mapping.
    • (2017) Nature , vol.547 , pp. 173-178
    • Huang, H.1
  • 31
    • 85009110706 scopus 로고    scopus 로고
    • The OncoArray Consortium: A network for understanding the genetic architecture of common cancers
    • Amos, C. I. et al. The OncoArray Consortium: a network for understanding the genetic architecture of common cancers. Cancer Epidemiol. Biomarkers Prevent. 26, 126-135 (2017).
    • (2017) Cancer Epidemiol. Biomarkers Prevent. , vol.26 , pp. 126-135
    • Amos, C.I.1
  • 32
    • 84865693681 scopus 로고    scopus 로고
    • The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits
    • Voight, B. F. et al. The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet. 8, e1002793 (2012).
    • (2012) PLoS Genet. , vol.8 , pp. e1002793
    • Voight, B.F.1
  • 33
    • 84882449068 scopus 로고    scopus 로고
    • Genetic insights into common pathways and complex relationships among immune-mediated diseases
    • Parkes, M., Cortes, A., van Heel, D. A. &Brown, M. A. Genetic insights into common pathways and complex relationships among immune-mediated diseases. Nat. Rev. Genet. 14, 661-673 (2013).
    • (2013) Nat. Rev. Genet. , vol.14 , pp. 661-673
    • Parkes, M.1    Cortes, A.2    Van Heel, D.A.3    Brown, M.A.4
  • 35
    • 84905002632 scopus 로고
    • A note on screening regression equations
    • Freedman, D. A note on screening regression equations. Am. Statistician 37, 152-155 (1983).
    • (1983) Am. Statistician , vol.37 , pp. 152-155
    • Freedman, D.1
  • 36
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • Barrett, J. C., Fry, B., Maller, J. &Daly, M. J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263-265 (2005).
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 37
    • 0034791035 scopus 로고    scopus 로고
    • High-resolution haplotype structure in the human genome
    • Daly, M., Rioux, J., Schaffner, S., Hudson, T. &Lander, E. High-resolution haplotype structure in the human genome. Nat. Genet. 29, 229-232 (2001).
    • (2001) Nat. Genet. , vol.29 , pp. 229-232
    • Daly, M.1    Rioux, J.2    Schaffner, S.3    Hudson, T.4    Lander, E.5
  • 38
    • 0043267974 scopus 로고    scopus 로고
    • Haplotype blocks and linkage disequilibrium in the human genome
    • Wall, J. D. &Pritchard, J. K. Haplotype blocks and linkage disequilibrium in the human genome. Nat. Rev. Genet. 4, 587-597 (2003).
    • (2003) Nat. Rev. Genet. , vol.4 , pp. 587-597
    • Wall, J.D.1    Pritchard, J.K.2
  • 40
    • 85194972808 scopus 로고    scopus 로고
    • Regression shrinkage and selection via the lasso
    • Tibshirani, R. Regression shrinkage and selection via the lasso. J. R. Statist. Soc. B 58, 267-288 (1996).
    • (1996) J. R. Statist. Soc. B , vol.58 , pp. 267-288
    • Tibshirani, R.1
  • 41
    • 71249123715 scopus 로고    scopus 로고
    • Elastic-net regularization approaches for genome-wide association studies of rheumatoid arthritis
    • Cho, S., Kim, H., Oh, S., Kim, K. &Park, T. Elastic-net regularization approaches for genome-wide association studies of rheumatoid arthritis. BMC Proc. 3 (Suppl. 7), S25 (2009).
    • (2009) BMC Proc. , vol.3 , pp. S25
    • Cho, S.1    Kim, H.2    Oh, S.3    Kim, K.4    Park, T.5
  • 42
    • 79959342076 scopus 로고    scopus 로고
    • Penalized methods for bi-level variable selection
    • Breheny, P. &Huang, J. Penalized methods for bi-level variable selection. Statist. Interface 2, 369-380 (2009).
    • (2009) Statist. Interface , vol.2 , pp. 369-380
    • Breheny, P.1    Huang, J.2
  • 43
    • 48249096806 scopus 로고    scopus 로고
    • Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies
    • Hoggart, C. J., Whittaker, J. C., De Iorio, M. &Balding, D. J. Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies. PLoS Genet. 4, e1000130 (2008).
    • (2008) PLoS Genet. , vol.4 , pp. e1000130
    • Hoggart, C.J.1    Whittaker, J.C.2    Deorio, M.3    Balding, D.J.4
  • 44
    • 78649523088 scopus 로고    scopus 로고
    • SNP selection in genomewide and candidate gene studies via penalized logistic regression
    • Ayers, K. L. &Cordell, H. J. SNP selection in genomewide and candidate gene studies via penalized logistic regression. Genet. Epidemiol. 34, 879-891 (2010).
    • (2010) Genet. Epidemiol. , vol.34 , pp. 879-891
    • Ayers, K.L.1    Cordell, H.J.2
  • 45
    • 82955223524 scopus 로고    scopus 로고
    • Bayesian variable selection regression for genome-wide association studies, and other large-scale problems
    • This paper provides a Bayesian computational framework to consider a large number of causal variants
    • Guan, Y. &Stephens, M. Bayesian variable selection regression for genome-wide association studies, and other large-scale problems. Ann. Appl. Statist. 5, 1780-1815 (2011). This paper provides a Bayesian computational framework to consider a large number of causal variants.
    • (2011) Ann. Appl. Statist. , vol.5 , pp. 1780-1815
    • Guan, Y.1    Stephens, M.2
  • 46
    • 84908042860 scopus 로고    scopus 로고
    • Identifying causal variants at loci with multiple signals of association
    • Hormozdiari, F., Kostem, E., Kang, E. Y., Pasaniuc, B. &Eskin, E. Identifying causal variants at loci with multiple signals of association. Genetics 198, 497-508 (2014).
    • (2014) Genetics , vol.198 , pp. 497-508
    • Hormozdiari, F.1    Kostem, E.2    Kang, E.Y.3    Pasaniuc, B.4    Eskin, E.5
  • 47
    • 84937035185 scopus 로고    scopus 로고
    • Fine mapping causal variants with an approximate Bayesian method using marginal test statistics
    • This paper links Bayesian fine-mapping using summary statistics and full data and describes an efficient computational approach using only relevant variables for each candidate model
    • Chen, W. et al. Fine mapping causal variants with an approximate Bayesian method using marginal test statistics. Genetics 200, 719-736 (2015). This paper links Bayesian fine-mapping using summary statistics and full data and describes an efficient computational approach using only relevant variables for each candidate model.
    • (2015) Genetics , vol.200 , pp. 719-736
    • Chen, W.1
  • 50
    • 84870502629 scopus 로고    scopus 로고
    • Bayesian refinement of association signals for 14 loci in 3 common diseases
    • Maller, J. B. et al. Bayesian refinement of association signals for 14 loci in 3 common diseases. Nat. Genet. 44, 1294-1301 (2012).
    • (2012) Nat. Genet. , vol.44 , pp. 1294-1301
    • Maller, J.B.1
  • 51
    • 84937791662 scopus 로고    scopus 로고
    • Dissection of a complex disease susceptibility region using a Bayesian stochastic search approach to fine mapping
    • Wallace, C. et al. Dissection of a complex disease susceptibility region using a bayesian stochastic search approach to fine mapping. PLoS Genet. 11, e1005272 (2015).
    • (2015) PLoS Genet. , vol.11 , pp. e1005272
    • Wallace, C.1
  • 52
    • 84970021973 scopus 로고    scopus 로고
    • Efficient Integrative Multi-SNP Association Analysis via Deterministic Approximation of Posteriors
    • Wen, X., Lee, Y., Luca, F. &Pique-Regi, R. Efficient Integrative Multi-SNP Association Analysis via Deterministic Approximation of Posteriors. Am. J. Hum. Genet. 98, 1114-1129 (2016).
    • (2016) Am. J. Hum. Genet. , vol.98 , pp. 1114-1129
    • Wen, X.1    Lee, Y.2    Luca, F.3    Pique-Regi, R.4
  • 53
    • 84970015769 scopus 로고    scopus 로고
    • FINEMAP: Efficient variable selection using summary data from genome-wide association studies
    • Benner, C. et al. FINEMAP: efficient variable selection using summary data from genome-wide association studies. Bioinformatics 32, 1493-1501 (2016).
    • (2016) Bioinformatics , vol.32 , pp. 1493-1501
    • Benner, C.1
  • 54
    • 85019665555 scopus 로고    scopus 로고
    • Improved methods for multi-trait fine mapping of pleiotropic risk loci
    • Kichaev, G. et al. Improved methods for multi-trait fine mapping of pleiotropic risk loci. Bioinformatics 33, 248-255 (2017).
    • (2017) Bioinformatics , vol.33 , pp. 248-255
    • Kichaev, G.1
  • 55
    • 84961872521 scopus 로고    scopus 로고
    • JAM: A scalable Bayesian framework for joint analysis of marginal SNP effects
    • This paper builds on prior developments of Bayes methods for fine-mapping and develops a computationally efficient method to explore a wide range of models that can include multiple causal variants in regions of interest
    • Newcombe, P. J., Conti, D. V. &Richardson, S. JAM: a scalable bayesian framework for joint analysis of marginal SNP effects. Genet. Epidemiol. 40, 188-201 (2016). This paper builds on prior developments of Bayes methods for fine-mapping and develops a computationally efficient method to explore a wide range of models that can include multiple causal variants in regions of interest.
    • (2016) Genet. Epidemiol. , vol.40 , pp. 188-201
    • Newcombe, P.J.1    Conti, D.V.2    Richardson, S.3
  • 56
    • 85048420948 scopus 로고    scopus 로고
    • Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants
    • This paper illustrates practical approaches to fine-mapping many genomic regions using Bayesian methods and illustrates the use of quantile regression to evaluate how genomic annotation is associated with SNPs that have a large Bayes posterior probability of being causally related to prostate cancer
    • Dadaev, T. et al. Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants. Nat. Commun. https:// doi.org/10.1038/s41467-018-04109-8 (2018). This paper illustrates practical approaches to fine-mapping many genomic regions using Bayesian methods and illustrates the use of quantile regression to evaluate how genomic annotation is associated with SNPs that have a large Bayes posterior probability of being causally related to prostate cancer.
    • (2018) Nat. Commun
    • Dadaev, T.1
  • 57
    • 84908324508 scopus 로고    scopus 로고
    • Integrating functional data to prioritize causal variants in statistical fine-mapping studies
    • This is the first of a series of papers regarding PAINTOR software for fine-mapping, allowing multiple causal variants and summary statistics and integrating functional annotations
    • Kichaev, G. et al. Integrating functional data to prioritize causal variants in statistical fine-mapping studies. PLoS Genet. 10, e1004722 (2014). This is the first of a series of papers regarding PAINTOR software for fine-mapping, allowing multiple causal variants and summary statistics and integrating functional annotations.
    • (2014) PLoS Genet. , vol.10 , pp. e1004722
    • Kichaev, G.1
  • 58
    • 75649083856 scopus 로고    scopus 로고
    • Meta-analysis of genome-wide association studies: No efficiency gain in using individual participant data
    • Lin, D. Y. &Zeng, D. Meta-analysis of genome-wide association studies: no efficiency gain in using individual participant data. Genet. Epidemiol. 34, 60-66 (2010).
    • (2010) Genet. Epidemiol. , vol.34 , pp. 60-66
    • Lin, D.Y.1    Zeng, D.2
  • 59
    • 84862832570 scopus 로고    scopus 로고
    • Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits
    • Yang, J. et al. Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat. Genet. 44, 369-375 (2012).
    • (2012) Nat. Genet. , vol.44 , pp. 369-375
    • Yang, J.1
  • 60
    • 85029709201 scopus 로고    scopus 로고
    • Prospects of fine-mapping traitassociated genomic regions by using summary statistics from genome-wide association studies
    • Benner, C. et al. Prospects of fine-mapping traitassociated genomic regions by using summary statistics from genome-wide association studies. Am. J. Hum. Genet. 101, 539-551 (2017).
    • (2017) Am. J. Hum. Genet. , vol.101 , pp. 539-551
    • Benner, C.1
  • 61
    • 84862775448 scopus 로고    scopus 로고
    • Consistency of genome-wide associations across major ancestral groups
    • Ntzani, E. E., Liberopoulos, G., Manolio, T. A. &Ioannidis, J. P. Consistency of genome-wide associations across major ancestral groups. Hum. Genet. 131, 1057-1071 (2012).
    • (2012) Hum. Genet. , vol.131 , pp. 1057-1071
    • Ntzani, E.E.1    Liberopoulos, G.2    Manolio, T.A.3    Ioannidis, J.P.4
  • 62
    • 84879655915 scopus 로고    scopus 로고
    • High trans-ethnic replicability of GWAS results implies common causal variants
    • This paper illustrates that common genetic associations of complex traits are highly conserved across diverse ethnic populations and motivates the application of trans-ethnic analysis
    • Marigorta, U. M. &Navarro, A. High trans-ethnic replicability of GWAS results implies common causal variants. PLoS Genet. 9, e1003566 (2013). This paper illustrates that common genetic associations of complex traits are highly conserved across diverse ethnic populations and motivates the application of trans-ethnic analysis.
    • (2013) PLoS Genet. , vol.9 , pp. e1003566
    • Marigorta, U.M.1    Navarro, A.2
  • 63
    • 84920807370 scopus 로고    scopus 로고
    • Trans-ethnic genome-wide association studies: Advantages and challenges of mapping in diverse populations
    • Li, Y. R. &Keating, B. J. Trans-ethnic genome-wide association studies: advantages and challenges of mapping in diverse populations. Genome Med. 6, 91 (2014).
    • (2014) Genome Med. , vol.6 , pp. 91
    • Li, Y.R.1    Keating, B.J.2
  • 64
    • 73149100820 scopus 로고    scopus 로고
    • Leveraging genetic variability across populations for the identification of causal variants
    • Zaitlen, N., Pasaniuc, B., Gur, T., Ziv, E. &Halperin, E. Leveraging genetic variability across populations for the identification of causal variants. Am. J. Hum. Genet. 86, 23-33 (2010).
    • (2010) Am. J. Hum. Genet. , vol.86 , pp. 23-33
    • Zaitlen, N.1    Pasaniuc, B.2    Gur, T.3    Ziv, E.4    Halperin, E.5
  • 65
    • 84956891115 scopus 로고    scopus 로고
    • Trans-ethnic study design approaches for fine-mapping
    • This paper demonstrates that reductions in fine-mapping credible sets are heavily dependent on ancestral composition of contributing studies and emphasizes the importance of trans-ethnic study design
    • Asimit, J. L., Hatzikotoulas, K., McCarthy, M., Morris, A. P. &Zeggini, E. Trans-ethnic study design approaches for fine-mapping. Eur. J. Hum. Genet. 24, 1330-1336 (2016). This paper demonstrates that reductions in fine-mapping credible sets are heavily dependent on ancestral composition of contributing studies and emphasizes the importance of trans-ethnic study design.
    • (2016) Eur. J. Hum. Genet. , vol.24 , pp. 1330-1336
    • Asimit, J.L.1    Hatzikotoulas, K.2    McCarthy, M.3    Morris, A.P.4    Zeggini, E.5
  • 66
    • 79955860273 scopus 로고    scopus 로고
    • Random-effects model aimed at discovering associations in meta-analysis of genome-wide association studies
    • Han, B. &Eskin, E. Random-effects model aimed at discovering associations in meta-analysis of genome-wide association studies. Am. J. Hum. Genet. 88, 586-598 (2011).
    • (2011) Am. J. Hum. Genet. , vol.88 , pp. 586-598
    • Han, B.1    Eskin, E.2
  • 67
    • 84877889897 scopus 로고    scopus 로고
    • Comparing methods for performing trans-ethnic meta-analysis of genome-wide association studies
    • Wang, X. et al. Comparing methods for performing trans-ethnic meta-analysis of genome-wide association studies. Hum. Mol. Genet. 22, 2303-2311 (2013).
    • (2013) Hum. Mol. Genet. , vol.22 , pp. 2303-2311
    • Wang, X.1
  • 68
    • 85009756485 scopus 로고    scopus 로고
    • Genome-wide trans-ethnic meta-analysis identifies seven genetic loci influencing erythrocyte traits and a role for RBPMS in erythropoiesis
    • van Rooij, F. J. et al. Genome-wide trans-ethnic meta-analysis identifies seven genetic loci influencing erythrocyte traits and a role for RBPMS in erythropoiesis. Am. J. Hum. Genet. 100, 51-63 (2017).
    • (2017) Am. J. Hum. Genet. , vol.100 , pp. 51-63
    • Van Rooij, F.J.1
  • 69
    • 84991336343 scopus 로고    scopus 로고
    • Variant discovery and fine mapping of genetic loci associated with blood pressure traits in Hispanics and African Americans
    • Franceschini, N. et al. Variant discovery and fine mapping of genetic loci associated with blood pressure traits in Hispanics and African Americans. PLoS ONE 11, e0164132 (2016).
    • (2016) PLoS ONE , vol.11 , pp. e0164132
    • Franceschini, N.1
  • 70
    • 84931564489 scopus 로고    scopus 로고
    • Trans-ethnic meta-analysis identifies common and rare variants associated with hepatocyte growth factor levels in the Multi-Ethnic Study of Atherosclerosis (MESA)
    • Larson, N. B. et al. Trans-ethnic meta-analysis identifies common and rare variants associated with hepatocyte growth factor levels in the Multi-Ethnic Study of Atherosclerosis (MESA). Ann. Hum. Genet. 79, 264-274 (2015).
    • (2015) Ann. Hum. Genet. , vol.79 , pp. 264-274
    • Larson, N.B.1
  • 71
    • 84938982145 scopus 로고    scopus 로고
    • Leveraging functionalannotation data in trans-ethnic fine-mapping studies
    • Kichaev, G. &Pasaniuc, B. Leveraging functionalannotation data in trans-ethnic fine-mapping studies. Am. J. Hum. Genet. 97, 260-271 (2015).
    • (2015) Am. J. Hum. Genet. , vol.97 , pp. 260-271
    • Kichaev, G.1    Pasaniuc, B.2
  • 72
    • 82355170584 scopus 로고    scopus 로고
    • Transethnic meta-analysis of genomewide association studies
    • This paper introduces a Bayesian partition model framework for trans-ethnic fine-mapping by clustering study populations based on genetic similarity in order to account for heterogeneity of allelic effects on a trait
    • Morris, A. P. Transethnic meta-analysis of genomewide association studies. Genet. Epidemiol. 35, 809-822 (2011). This paper introduces a Bayesian partition model framework for trans-ethnic fine-mapping by clustering study populations based on genetic similarity in order to account for heterogeneity of allelic effects on a trait.
    • (2011) Genet. Epidemiol. , vol.35 , pp. 809-822
    • Morris, A.P.1
  • 73
    • 85029022083 scopus 로고    scopus 로고
    • Trans-ancestry fine mapping and molecular assays identify regulatory variants at the ANGPTL8 HDL-C GWAS locus
    • Cannon, M. E. et al. Trans-ancestry fine mapping and molecular assays identify regulatory variants at the ANGPTL8 HDL-C GWAS locus. G3 7, 3217-3227 (2017).
    • (2017) G3 , vol.7 , pp. 3217-3227
    • Cannon, M.E.1
  • 74
    • 85040673553 scopus 로고    scopus 로고
    • Trans-ethnic meta-regression of genomewide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution
    • Magi, R. et al. Trans-ethnic meta-regression of genomewide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution. Hum. Mol. Genet. 26, 3639-3650 (2017).
    • (2017) Hum. Mol. Genet. , vol.26 , pp. 3639-3650
    • Magi, R.1
  • 76
    • 84865760395 scopus 로고    scopus 로고
    • GENCODE: The reference human genome annotation for the ENCODE Project
    • Harrow, J. et al. GENCODE: the reference human genome annotation for The ENCODE Project. Genome Res. 22, 1760-1774 (2012).
    • (2012) Genome Res. , vol.22 , pp. 1760-1774
    • Harrow, J.1
  • 77
    • 7444260846 scopus 로고    scopus 로고
    • The ENCODE (ENCyclopedia of DNA Elements) Project
    • ENCODE Project Consortium
    • ENCODE Project Consortium. The ENCODE (ENCyclopedia Of DNA Elements) Project. Science 306, 636-640 (2004).
    • (2004) Science , vol.306 , pp. 636-640
  • 78
    • 84897459814 scopus 로고    scopus 로고
    • An atlas of active enhancers across human cell types and tissues
    • Andersson, R. et al. An atlas of active enhancers across human cell types and tissues. Nature 507, 455-461 (2014).
    • (2014) Nature , vol.507 , pp. 455-461
    • Andersson, R.1
  • 79
    • 84923362619 scopus 로고    scopus 로고
    • Integrative analysis of 111 reference human epigenomes
    • Roadmap Epigenomics Consortium et al.
    • Roadmap Epigenomics Consortium et al. Integrative analysis of 111 reference human epigenomes. Nature 518, 317-330 (2015).
    • (2015) Nature , vol.518 , pp. 317-330
  • 80
    • 84865812140 scopus 로고    scopus 로고
    • ENCODE project writes eulogy for junk DNA
    • Pennisi, E. ENCODE project writes eulogy for junk DNA. Science 337, 1159-1161 (2012).
    • (2012) Science , vol.337 , pp. 1159-1161
    • Pennisi, E.1
  • 81
    • 84865822182 scopus 로고    scopus 로고
    • Systematic localization of common disease-associated variation in regulatory DNA
    • This paper leverages cell-line regulatory annotation to identify disease-relevant cell types and reveals that common genetic trait associations are enriched in functional DNA
    • Maurano, M. T. et al. Systematic localization of common disease-associated variation in regulatory DNA. Science 337, 1190-1195 (2012). This paper leverages cell-line regulatory annotation to identify disease-relevant cell types and reveals that common genetic trait associations are enriched in functional DNA.
    • (2012) Science , vol.337 , pp. 1190-1195
    • Maurano, M.T.1
  • 82
    • 84969542809 scopus 로고    scopus 로고
    • Disease-associated variants in different categories of disease located in distinct regulatory elements
    • Ma, M. et al. Disease-associated variants in different categories of disease located in distinct regulatory elements. BMC Genomics 16 (Suppl. 8), S3 (2015).
    • (2015) BMC Genomics , vol.16 , pp. S3
    • Ma, M.1
  • 83
    • 84873086126 scopus 로고    scopus 로고
    • Chromatin marks identify critical cell types for fine mapping complex trait variants
    • Trynka, G. et al. Chromatin marks identify critical cell types for fine mapping complex trait variants. Nat. Genet. 45, 124-130 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 124-130
    • Trynka, G.1
  • 84
    • 84992046681 scopus 로고    scopus 로고
    • The state of play in higher eukaryote gene annotation
    • Mudge, J. M. &Harrow, J. The state of play in higher eukaryote gene annotation. Nat. Rev. Genet. 17, 758-772 (2016).
    • (2016) Nat. Rev. Genet. , vol.17 , pp. 758-772
    • Mudge, J.M.1    Harrow, J.2
  • 85
    • 85029470345 scopus 로고    scopus 로고
    • Settling the score: Variant prioritization and Mendelian disease
    • Eilbeck, K., Quinlan, A. &Yandell, M. Settling the score: variant prioritization and Mendelian disease. Nat. Rev. Genet. 18, 599-612 (2017).
    • (2017) Nat. Rev. Genet. , vol.18 , pp. 599-612
    • Eilbeck, K.1    Quinlan, A.2    Yandell, M.3
  • 86
    • 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
  • 87
    • 84991615407 scopus 로고    scopus 로고
    • REVEL: An ensemble method for predicting the pathogenicity of rare missense variants
    • Ioannidis, N. M. et al. REVEL: an ensemble method for predicting the pathogenicity of rare missense variants. Am. J. Hum. Genet. 99, (877-885 (2016).
    • (2016) Am. J. Hum. Genet. , vol.99 , pp. 877-885
    • Ioannidis, N.M.1
  • 88
    • 34250305146 scopus 로고    scopus 로고
    • Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
    • Birney, E. et al. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 447, 799-816 (2007).
    • (2007) Nature , vol.447 , pp. 799-816
    • Birney, E.1
  • 89
    • 0029960055 scopus 로고    scopus 로고
    • TRANSFAC: A database on transcription factors and their DNA binding sites
    • Wingender, E., Dietze, P., Karas, H. &Knuppel, R. TRANSFAC: a database on transcription factors and their DNA binding sites. Nucleic Acids Res. 24, 238-241 (1996).
    • (1996) Nucleic Acids Res. , vol.24 , pp. 238-241
    • Wingender, E.1    Dietze, P.2    Karas, H.3    Knuppel, R.4
  • 90
    • 84891808382 scopus 로고    scopus 로고
    • JASPAR 2014: An extensively expanded and updated open-access database of transcription factor binding profiles
    • Mathelier, A. et al. JASPAR 2014: an extensively expanded and updated open-access database of transcription factor binding profiles. Nucleic Acids Res. 42, D142-D147 (2014).
    • (2014) Nucleic Acids Res. , vol.42 , pp. D142-D147
    • Mathelier, A.1
  • 91
    • 85043978136 scopus 로고    scopus 로고
    • FIRE: Functional inference of genetic variants that regulate gene expression
    • Ioannidis, N. et al. FIRE: functional inference of genetic variants that regulate gene expression. Bioinformatics 33, 3895-3901 (2017).
    • (2017) Bioinformatics , vol.33 , pp. 3895-3901
    • Ioannidis, N.1
  • 92
    • 84865712382 scopus 로고    scopus 로고
    • Annotation of functional variation in personal genomes using RegulomeDB
    • Boyle, A. P. et al. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res. 22, 1790-1797 (2012).
    • (2012) Genome Res. , vol.22 , pp. 1790-1797
    • Boyle, A.P.1
  • 93
    • 84959575456 scopus 로고    scopus 로고
    • Weighting sequence variants based on their annotation increases power of whole-genome association studies
    • Sveinbjornsson, G. et al. Weighting sequence variants based on their annotation increases power of whole-genome association studies. Nat. Genet. 48, 314-317 (2016).
    • (2016) Nat. Genet. , vol.48 , pp. 314-317
    • Sveinbjornsson, G.1
  • 94
    • 84994894081 scopus 로고    scopus 로고
    • Incorporating functional annotations for fine-mapping causal variants in a Bayesian framework using summary statistics
    • Chen, W., McDonnell, S., Thibodeau, S., Tillmans, L. &Schaid, D. Incorporating functional annotations for fine-mapping causal variants in a Bayesian framework using summary statistics. Genetics 204, 933-958 (2016).
    • (2016) Genetics , vol.204 , pp. 933-958
    • Chen, W.1    McDonnell, S.2    Thibodeau, S.3    Tillmans, L.4    Schaid, D.5
  • 95
    • 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
  • 96
    • 84930368286 scopus 로고    scopus 로고
    • Cross-population joint analysis of eQTLs: Fine mapping and functional annotation
    • Wen, X., Luca, F. &Pique-Regi, R. Cross-population joint analysis of eQTLs: fine mapping and functional annotation. PLoS Genet. 11, e1005176 (2015).
    • (2015) PLoS Genet. , vol.11 , pp. e1005176
    • Wen, X.1    Luca, F.2    Pique-Regi, R.3
  • 97
    • 84876476409 scopus 로고    scopus 로고
    • Incorporating prior biologic information for high-dimensional rare variant association studies
    • Quintana, M. A. et al. Incorporating prior biologic information for high-dimensional rare variant association studies. Hum. Hered. 74, 184-195 (2012).
    • (2012) Hum. Hered. , vol.74 , pp. 184-195
    • Quintana, M.A.1
  • 98
    • 77951439152 scopus 로고    scopus 로고
    • Trait-associated SNPs are more likely to be eQTLs: Annotation to enhance discovery from GWAS
    • Nicolae, D. L. et al. Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genet. 6, e1000888 (2010).
    • (2010) PLoS Genet. , vol.6 , pp. e1000888
    • Nicolae, D.L.1
  • 99
    • 67650258730 scopus 로고    scopus 로고
    • Disentangling molecular relationships with a causal inference test
    • Millstein, J., Zhang, B., Zhu, J. &Schadt, E. E. Disentangling molecular relationships with a causal inference test. BMC Genet. 10, 23 (2009).
    • (2009) BMC Genet. , vol.10 , pp. 23
    • Millstein, J.1    Zhang, B.2    Zhu, J.3    Schadt, E.E.4
  • 100
    • 84901631426 scopus 로고    scopus 로고
    • Bayesian test for colocalisation between pairs of genetic association studies using summary statistics
    • Giambartolomei, C. et al. Bayesian test for colocalisation between pairs of genetic association studies using summary statistics. PLoS Genet. 10, e1004383 (2014).
    • (2014) PLoS Genet. , vol.10 , pp. e1004383
    • Giambartolomei, C.1
  • 101
    • 85003806635 scopus 로고    scopus 로고
    • Colocalization of GWAS and eQTL signals detects target genes
    • Hormozdiari, F. et al. Colocalization of GWAS and eQTL signals detects target genes. Am. J. Hum. Genet. 99, 1245-1260 (2016).
    • (2016) Am. J. Hum. Genet. , vol.99 , pp. 1245-1260
    • Hormozdiari, F.1
  • 102
    • 84961927084 scopus 로고    scopus 로고
    • Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets
    • Zhu, Z. H. et al. Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets. Nat. Genet. 48, 481-487 (2016).
    • (2016) Nat. Genet. , vol.48 , pp. 481-487
    • Zhu, Z.H.1
  • 103
    • 85031313737 scopus 로고    scopus 로고
    • Genetic effects on gene expression across human tissues
    • Battle, A., Brown, C. D., Engelhardt, B. E. &Montgomery, S. B. Genetic effects on gene expression across human tissues. Nature 550, 204-213 (2017).
    • (2017) Nature , vol.550 , pp. 204-213
    • Battle, A.1    Brown, C.D.2    Engelhardt, B.E.3    Montgomery, S.B.4
  • 105
    • 67649834757 scopus 로고    scopus 로고
    • Characterization of six human disease-associated inversion polymorphisms
    • Antonacci, F. et al. Characterization of six human disease-associated inversion polymorphisms. Hum. Mol. Genet. 18, 2555-2566 (2009).
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 2555-2566
    • Antonacci, F.1
  • 106
    • 85019180945 scopus 로고    scopus 로고
    • Quantifying the mapping precision of genome-wide association studies using whole-genome sequencing data
    • Wu, Y., Zheng, Z., Visscher, P. M. &Yang, J. Quantifying the mapping precision of genome-wide association studies using whole-genome sequencing data. Genome Biol. 18, 86 (2017).
    • (2017) Genome Biol. , vol.18 , pp. 86
    • Wu, Y.1    Zheng, Z.2    Visscher, P.M.3    Yang, J.4
  • 107
    • 84991577085 scopus 로고    scopus 로고
    • Guidelines for large-scale sequence-based complex trait association studies: Lessons learned from the NHLBI Exome Sequencing Project
    • Auer, P. L. et al. Guidelines for large-scale sequence-based complex trait association studies: lessons learned from the NHLBI Exome Sequencing Project. Am. J. Hum. Genet. 99, 791-801 (2016).
    • (2016) Am. J. Hum. Genet. , vol.99 , pp. 791-801
    • Auer, P.L.1
  • 108
    • 80051499915 scopus 로고    scopus 로고
    • Rare-variant association testing for sequencing data with the sequence kernel association test
    • Wu, M. C. et al. Rare-variant association testing for sequencing data with the sequence kernel association test. Am. J. Hum. Genet. 89, 82-93 (2011).
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 82-93
    • Wu, M.C.1
  • 109
    • 85009731496 scopus 로고    scopus 로고
    • Practical approaches for wholegenome sequence analysis of heart-and blood-related traits
    • Morrison, A. C. et al. Practical approaches for wholegenome sequence analysis of heart-and blood-related traits. Am. J. Hum. Genet. 100, 205-215 (2017).
    • (2017) Am. J. Hum. Genet. , vol.100 , pp. 205-215
    • Morrison, A.C.1
  • 110
    • 85041621875 scopus 로고    scopus 로고
    • Assessment of the clinical relevance of BRCA2 missense variants by functional and computational approaches
    • Guidugli, L. et al. Assessment of the clinical relevance of BRCA2 missense variants by functional and computational approaches. Am. J. Hum. Genet. 102, 233-248 (2018).
    • (2018) Am. J. Hum. Genet. , vol.102 , pp. 233-248
    • Guidugli, L.1
  • 111
    • 85020941675 scopus 로고    scopus 로고
    • An expanded view of complex traits: From polygenic to omnigenic
    • Boyle, E. A., Li, Y. I. &Pritchard, J. K. An expanded view of complex traits: from polygenic to omnigenic. Cell 169, 1177-1186 (2017).
    • (2017) Cell , vol.169 , pp. 1177-1186
    • Boyle, E.A.1    Li, Y.I.2    Pritchard, J.K.3
  • 112
    • 85015026077 scopus 로고    scopus 로고
    • Genome-wide associations of CD46 and IFI44L genetic variants with neutralizing antibody response to measles vaccine
    • Haralambieva, I. H. et al. Genome-wide associations of CD46 and IFI44L genetic variants with neutralizing antibody response to measles vaccine. Hum. Genet. 136, 421-435 (2017).
    • (2017) Hum. Genet. , vol.136 , pp. 421-435
    • Haralambieva, I.H.1
  • 113
    • 34547622688 scopus 로고    scopus 로고
    • Imputation-based analysis of association studies: Candidate regions and quantitative traits
    • Servin, B. &Stephens, M. Imputation-based analysis of association studies: candidate regions and quantitative traits. PLoS Genet. 3, e114 (2007).
    • (2007) PLoS Genet. , vol.3 , pp. e114
    • Servin, B.1    Stephens, M.2
  • 114
    • 58149175796 scopus 로고    scopus 로고
    • Practical issues in imputation-based association mapping
    • Guan, Y. &Stephens, M. Practical issues in imputation-based association mapping. PLoS Genet. 4, e1000279 (2008).
    • (2008) PLoS Genet. , vol.4 , pp. e1000279
    • Guan, Y.1    Stephens, M.2
  • 115
    • 84879818733 scopus 로고    scopus 로고
    • A unified framework for association analysis with multiple related phenotypes
    • Stephens, M. A unified framework for association analysis with multiple related phenotypes. PloS ONE 8, e65245 (2013).
    • (2013) PloS ONE , vol.8 , pp. e65245
    • Stephens, M.1
  • 116
    • 84928253865 scopus 로고    scopus 로고
    • A multivariate genome-wide association analysis of 10 LDL subfractions, and their response to statin treatment, in 1868 Caucasians
    • Shim, H. et al. A multivariate genome-wide association analysis of 10 LDL subfractions, and their response to statin treatment, in 1868 Caucasians. PloS ONE 10, e0120758 (2015).
    • (2015) PloS ONE , vol.10 , pp. e0120758
    • Shim, H.1
  • 117
    • 34347344976 scopus 로고    scopus 로고
    • A new multipoint method for genomewide association studies by imputation of genotypes
    • Marchini, J., Howie, B., Myers, S., McVean, G. &Donnelly, P. A new multipoint method for genomewide association studies by imputation of genotypes. Nat. Genet. 39, 906-913 (2007).
    • (2007) Nat. Genet. , vol.39 , pp. 906-913
    • Marchini, J.1    Howie, B.2    Myers, S.3    McVean, G.4    Donnelly, P.5
  • 118
    • 84887187386 scopus 로고    scopus 로고
    • Integrative variable selection via Bayesian model uncertainty
    • Quintana, M. A. &Conti, D. V. Integrative variable selection via Bayesian model uncertainty. Stat. Med. 32, 4938-4953 (2013).
    • (2013) Stat. Med. , vol.32 , pp. 4938-4953
    • Quintana, M.A.1    Conti, D.V.2
  • 119
    • 80054758152 scopus 로고    scopus 로고
    • Incorporating model uncertainty in detecting rare variants: The Bayesian risk index
    • Quintana, M. A., Berstein, J. L., Thomas, D. C. &Conti, D. V. Incorporating model uncertainty in detecting rare variants: the Bayesian risk index. Genet. Epidemiol. 35, 638-649 (2011).
    • (2011) Genet. Epidemiol. , vol.35 , pp. 638-649
    • Quintana, M.A.1    Berstein, J.L.2    Thomas, D.C.3    Conti, D.V.4
  • 120
    • 84976520467 scopus 로고    scopus 로고
    • Trinculo: Bayesian and frequentist multinomial logistic regression for genomewide association studies of multi-category phenotypes
    • Jostins, L. &McVean, G. Trinculo: Bayesian and frequentist multinomial logistic regression for genomewide association studies of multi-category phenotypes. Bioinformatics 32, 1898-1900 (2016).
    • (2016) Bioinformatics , vol.32 , pp. 1898-1900
    • Jostins, L.1    McVean, G.2
  • 121
    • 66049114148 scopus 로고    scopus 로고
    • Bayes factors for genome-wide association studies: Comparison with P-values
    • Wakefield, J. Bayes factors for genome-wide association studies: comparison with P-values. Genet. Epidemiol. 33, 79-86 (2008).
    • (2008) Genet. Epidemiol. , vol.33 , pp. 79-86
    • Wakefield, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.