메뉴 건너뛰기




Volumn 17, Issue 3, 2016, Pages 129-145

Unravelling the human genome-phenome relationship using phenome-wide association studies

Author keywords

[No Author keywords available]

Indexed keywords

ALGORITHM; BIOETHICS; COMORBIDITY; CURRENT PROCEDURAL TERMINOLOGY; EFFECT SIZE; ELECTRONIC MEDICAL RECORD; EPIDEMIOLOGICAL DATA; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC TRAIT; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN GENOME; ICD-9-CM; LEGAL ASPECT; METHODOLOGY; NOMENCLATURE; PERSONALIZED MEDICINE; PHENOTYPE; PLEIOTROPY; POLYACRYLAMIDE GEL ELECTROPHORESIS; PREDICTIVE VALUE; PRIORITY JOURNAL; QUANTITATIVE TRAIT; REVIEW; SOCIAL ASPECT; DISEASES; ELECTRONIC HEALTH RECORD; GENETIC ASSOCIATION STUDY; GENETIC VARIATION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; GENOTYPING TECHNIQUE; HUMAN;

EID: 84958659058     PISSN: 14710056     EISSN: 14710064     Source Type: Journal    
DOI: 10.1038/nrg.2015.36     Document Type: Review
Times cited : (209)

References (177)
  • 1
    • 84956762643 scopus 로고
    • The linear arrangement of six sex-linked factors in Drosophila, as shown by their mode of association
    • Sturtevant, A. J. The linear arrangement of six sex-linked factors in Drosophila, as shown by their mode of association. J. Exp. Zool. 14, 59 (1913).
    • (1913) J. Exp. Zool , vol.14 , pp. 59
    • Sturtevant, A.J.1
  • 2
    • 41749088902 scopus 로고    scopus 로고
    • The HLA rgion and autoimmune disease: Associations and mechanisms of action
    • Gough, S. C. & Simmonds, M. J. The HLA rgion and autoimmune disease: associations and mechanisms of action. Curr. Genom. 8, 453-465 (2007).
    • (2007) Curr. Genom , vol.8 , pp. 453-465
    • Gough, S.C.1    Simmonds, M.J.2
  • 3
    • 0037648405 scopus 로고    scopus 로고
    • Association of the T cell regulatory gene CTLA4 with susceptibility to autoimmune disease
    • Ueda, H., et al. Association of the T cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 423, 506-511 (2003).
    • (2003) Nature , vol.423 , pp. 506-511
    • Ueda, H.1
  • 4
    • 20144387851 scopus 로고    scopus 로고
    • Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: The PTPN22 620W allele associates with multiple autoimmune phenotypes
    • Criswell, L. A., et al. Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am. J. Hum. Genet. 76, 561-571 (2005).
    • (2005) Am. J. Hum. Genet , vol.76 , pp. 561-571
    • Criswell, L.A.1
  • 5
    • 57749193136 scopus 로고    scopus 로고
    • Detecting shared pathogenesis from the shared genetics of immune-related diseases
    • Zhernakova, A., Van Diemen, C. C. & Wijmenga, C. Detecting shared pathogenesis from the shared genetics of immune-related diseases. Nat. Rev. Genet. 10, 43-55 (2009).
    • (2009) Nat. Rev. Genet , vol.10 , pp. 43-55
    • Zhernakova, A.1    Van Diemen, C.C.2    Wijmenga, C.3
  • 6
    • 34249888775 scopus 로고    scopus 로고
    • Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
    • Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes of BioMedical Research et al.
    • Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes of BioMedical Research et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 316, 1331-1336 (2007).
    • (2007) Science , vol.316 , pp. 1331-1336
  • 7
    • 34249996115 scopus 로고    scopus 로고
    • A common allele on chromosome 9 associated with coronary heart disease
    • McPherson, R., et al. A common allele on chromosome 9 associated with coronary heart disease. Science 316, 1488-1491 (2007).
    • (2007) Science , vol.316 , pp. 1488-1491
    • McPherson, R.1
  • 8
    • 34250010480 scopus 로고    scopus 로고
    • A common variant on chromosome 9p21 affects the risk of myocardial infarction
    • Helgadottir, A., et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science 316, 1491-1493 (2007).
    • (2007) Science , vol.316 , pp. 1491-1493
    • Helgadottir, A.1
  • 9
    • 34547623750 scopus 로고    scopus 로고
    • Genomewide association analysis of coronary artery disease
    • Samani, N. J., et al. Genomewide association analysis of coronary artery disease. N. Engl. J. Med. 357, 443-453 (2007).
    • (2007) N. Engl. J. Med , vol.357 , pp. 443-453
    • Samani, N.J.1
  • 10
    • 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
  • 11
    • 80955135827 scopus 로고    scopus 로고
    • Abundant pleiotropy in human complex diseases and traits
    • Sivakumaran, S., et al. Abundant pleiotropy in human complex diseases and traits. Am. J. Hum. Genet. 89, 607-618 (2011).
    • (2011) Am. J. Hum. Genet , vol.89 , pp. 607-618
    • Sivakumaran, S.1
  • 13
    • 78951491095 scopus 로고    scopus 로고
    • One hundred years of pleiotropy: A retrospective
    • Stearns, F. W. One hundred years of pleiotropy: a retrospective. Genetics 186, 767-773 (2010).
    • (2010) Genetics , vol.186 , pp. 767-773
    • Stearns, F.W.1
  • 14
    • 79951799418 scopus 로고    scopus 로고
    • The pleiotropic structure of the genotype-phenotype map: The evolvability of complex organisms
    • Wagner, G. P. & Zhang, J. The pleiotropic structure of the genotype-phenotype map: the evolvability of complex organisms. Nat. Rev. Genet. 12, 204-213 (2011).
    • (2011) Nat. Rev. Genet , vol.12 , pp. 204-213
    • Wagner, G.P.1    Zhang, J.2
  • 15
    • 84958599838 scopus 로고    scopus 로고
    • The detection and characterization of pleiotropy discovery, progress, and promise
    • Tyler, A. L., Crawford, D. C. & Pendergrass, S. A. The detection and characterization of pleiotropy. discovery, progress, and promise. Brief. Bioinform. 17, 13-22 (2016).
    • (2016) Brief. Bioinform , vol.17 , pp. 13-22
    • Tyler, A.L.1    Crawford, D.C.2    Pendergrass, S.A.3
  • 16
    • 84926659527 scopus 로고    scopus 로고
    • Opportunities for drug repositioning from phenome-wide association studies
    • Rastegar-Mojarad, M., Ye, Z., Kolesar, J. M., Hebbring, S. J. & Lin, S. M. Opportunities for drug repositioning from phenome-wide association studies. Nat. Biotechnol. 33, 342-345 (2015).
    • (2015) Nat. Biotechnol , vol.33 , pp. 342-345
    • Rastegar-Mojarad, M.1    Ye, Z.2    Kolesar, J.M.3    Hebbring, S.J.4    Lin, S.M.5
  • 17
    • 84923762812 scopus 로고    scopus 로고
    • New initiative on precision medicine
    • Collins, F. S. & Varmus, H. A. New initiative on precision medicine. N. Engl. J. Med. 372, 793-795 (2015).
    • (2015) N. Engl. J. Med , vol.372 , pp. 793-795
    • Collins, F.S.1    Varmus, H.A.2
  • 18
    • 84947094451 scopus 로고    scopus 로고
    • Phenome-wide association studies: Leveraging comprehensive phenotypic and genotypic data for discovery
    • Pendergrass, S. A. & Ritchie, M. Phenome-wide association studies: leveraging comprehensive phenotypic and genotypic data for discovery. Curr. Genet. Med. Rep. 3, 92-100 (2015).
    • (2015) Curr. Genet. Med. Rep , vol.3 , pp. 92-100
    • Pendergrass, S.A.1    Ritchie, M.2
  • 19
    • 84891895694 scopus 로고    scopus 로고
    • The challenges, advantages and future of phenome-wide association studies
    • Hebbring, S. J. The challenges, advantages and future of phenome-wide association studies. Immunology 141, 157-165 (2014).
    • (2014) Immunology , vol.141 , pp. 157-165
    • Hebbring, S.J.1
  • 20
    • 84937871974 scopus 로고    scopus 로고
    • Phenome-wide association studies: Embracing complexity for discovery
    • Pendergrass, S. A., et al. Phenome-wide association studies: embracing complexity for discovery. Hum. Hered. 3-4, 111-123 (2015).
    • (2015) Hum. Hered , vol.3-4 , pp. 111-123
    • Pendergrass, S.A.1
  • 21
    • 84860596557 scopus 로고    scopus 로고
    • Patterns of cis regulatory variation in diverse human populations
    • Stranger, B. E., et al. Patterns of cis regulatory variation in diverse human populations. PLoS Genet. 8, e1002639 (2012).
    • (2012) PLoS Genet , vol.8 , pp. e1002639
    • Stranger, B.E.1
  • 22
    • 55449112450 scopus 로고    scopus 로고
    • High-resolution mapping of expression-QTLs yields insight into human gene regulation
    • Veyrieras, J. B., et al. High-resolution mapping of expression-QTLs yields insight into human gene regulation. PLoS Genet. 4, e1000214 (2008).
    • (2008) PLoS Genet , vol.4 , pp. e1000214
    • Veyrieras, J.B.1
  • 23
    • 84868154284 scopus 로고    scopus 로고
    • The contribution of RNA decay quantitative trait loci to inter-individual variation in steady-state gene expression levels
    • Pai, A. A., et al. The contribution of RNA decay quantitative trait loci to inter-individual variation in steady-state gene expression levels. PLoS Genet. 8, e1003000 (2012).
    • (2012) PLoS Genet , vol.8 , pp. e1003000
    • Pai, A.A.1
  • 24
    • 84870674869 scopus 로고    scopus 로고
    • Controls of nucleosome positioning in the human genome
    • Gaffney, D. J., et al. Controls of nucleosome positioning in the human genome. PLoS Genet. 8, e1003036 (2012).
    • (2012) PLoS Genet , vol.8 , pp. e1003036
    • Gaffney, D.J.1
  • 25
    • 84857111200 scopus 로고    scopus 로고
    • DNase i sensitivity QTLs are a major determinant of human expression variation
    • Degner, J. F., et al. DNase I sensitivity QTLs are a major determinant of human expression variation. Nature 482, 390-394 (2012).
    • (2012) Nature , vol.482 , pp. 390-394
    • Degner, J.F.1
  • 26
    • 84922469439 scopus 로고    scopus 로고
    • Impact of regulatory variation from RNA to protein
    • Battle, A., et al. Impact of regulatory variation from RNA to protein. Science 347, 664-667 (2015).
    • (2015) Science , vol.347 , pp. 664-667
    • Battle, A.1
  • 27
    • 84879879014 scopus 로고    scopus 로고
    • Variation and genetic control of protein abundance in humans
    • Wu, L., et al. Variation and genetic control of protein abundance in humans. Nature 499, 79-82 (2013).
    • (2013) Nature , vol.499 , pp. 79-82
    • Wu, L.1
  • 28
    • 84905912559 scopus 로고    scopus 로고
    • Identification and validation of genetic variants that influence transcription factor and cell signaling protein levels
    • Hause, R., et al. Identification and validation of genetic variants that influence transcription factor and cell signaling protein levels. Am. J. Hum. Genet. 95, 194-208 (2014).
    • (2014) Am. J. Hum. Genet , vol.95 , pp. 194-208
    • Hause, R.1
  • 29
    • 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
  • 31
    • 0035895505 scopus 로고    scopus 로고
    • The sequence of the human genome
    • Venter, J. C., et al. The sequence of the human genome. Science 291, 1304-1351 (2001).
    • (2001) Science , vol.291 , pp. 1304-1351
    • Venter, J.C.1
  • 32
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome
    • Lander, E. S., et al. Initial sequencing and analysis of the human genome. Nature 409, 860-921 (2001).
    • (2001) Nature , vol.409 , pp. 860-921
    • Lander, E.S.1
  • 33
    • 79951481957 scopus 로고    scopus 로고
    • Initial impact of the sequencing of the human genome
    • Lander, E. S. Initial impact of the sequencing of the human genome. Nature 470, 187-197 (2011).
    • (2011) Nature , vol.470 , pp. 187-197
    • Lander, E.S.1
  • 34
    • 84872040426 scopus 로고    scopus 로고
    • Chapter 11: Genome-wide association studies
    • Bush, W. S. & Moore, J. H. Chapter 11: genome-wide association studies. PLoS Comput. Biol. 8, e1002822 (2012).
    • (2012) PLoS Comput. Biol , vol.8 , pp. e1002822
    • Bush, W.S.1    Moore, J.H.2
  • 35
    • 77952720637 scopus 로고    scopus 로고
    • Genome-wide association studies and beyond
    • Witte, J. S. Genome-wide association studies and beyond. Annu. Rev. Publ. Health 31, 9-20 (2010).
    • (2010) Annu. Rev. Publ. Health , vol.31 , pp. 9-20
    • Witte, J.S.1
  • 36
    • 55449120805 scopus 로고    scopus 로고
    • Genetic mapping in human disease
    • Altshuler, D., Daly, M. J. & Lander, E. S. Genetic mapping in human disease. Science 322, 881-888 (2008).
    • (2008) Science , vol.322 , pp. 881-888
    • Altshuler, D.1    Daly, M.J.2    Lander, E.S.3
  • 37
    • 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
  • 38
    • 84861235431 scopus 로고    scopus 로고
    • Mining electronic health records: Towards better research applications and clinical care
    • Jensen, P. B., Jensen, L. J. & Brunak, S. Mining electronic health records: towards better research applications and clinical care. Nat. Rev. Genet. 13, 395-405 (2012).
    • (2012) Nat. Rev. Genet , vol.13 , pp. 395-405
    • Jensen, P.B.1    Jensen, L.J.2    Brunak, S.3
  • 39
    • 79956327715 scopus 로고    scopus 로고
    • Using electronic health records to drive discovery in disease genomics
    • Kohane, I. S. Using electronic health records to drive discovery in disease genomics. Nat. Rev. Genet. 12, 417-428 (2011).
    • (2011) Nat. Rev. Genet , vol.12 , pp. 417-428
    • Kohane, I.S.1
  • 40
    • 84939422197 scopus 로고    scopus 로고
    • Characterizing race/ethnicity and genetic ancestry for 100, 000 subjects in the genetic epidemiology research on adult health and aging (GERA) cohort
    • Banda, Y., et al. Characterizing race/ethnicity and genetic ancestry for 100, 000 subjects in the genetic epidemiology research on adult health and aging (GERA) cohort. Genetics 200, 1285-1295 (2015).
    • (2015) Genetics , vol.200 , pp. 1285-1295
    • Banda, Y.1
  • 41
    • 84939426058 scopus 로고    scopus 로고
    • Genotyping informatics and quality control for 100, 000 subjects in the genetic epidemiology research on adult health and aging (GERA) cohort
    • Kvale, M. N., et al. Genotyping informatics and quality control for 100, 000 subjects in the genetic epidemiology research on adult health and aging (GERA) cohort. Genetics 200, 1051-1060 (2015).
    • (2015) Genetics , vol.200 , pp. 1051-1060
    • Kvale, M.N.1
  • 42
    • 84957436835 scopus 로고    scopus 로고
    • Million Veteran Program: A mega-biobank to study genetic influences on health and disease
    • Gaziano, J. M., et al. Million Veteran Program: a mega-biobank to study genetic influences on health and disease. J. Clin. Epidemiol. 70, 214-223 (2016).
    • (2016) J. Clin. Epidemiol , vol.70 , pp. 214-223
    • Gaziano, J.M.1
  • 43
    • 79251581866 scopus 로고    scopus 로고
    • The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies
    • McCarty, C., et al. The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Medical Genomics 4, 13 (2011).
    • (2011) BMC Medical Genomics , vol.4 , pp. 13
    • McCarty, C.1
  • 44
    • 84875931887 scopus 로고    scopus 로고
    • Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk
    • Ritchie, M. D., et al. Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk. Circulation 127, 1377-1385 (2013).
    • (2013) Circulation , vol.127 , pp. 1377-1385
    • Ritchie, M.D.1
  • 45
    • 78549244038 scopus 로고    scopus 로고
    • Identification of genomic predictors of atrioventricular conduction
    • Denny, J. C., et al. Identification of genomic predictors of atrioventricular conduction. Circulation 122, 2016-2021 (2010).
    • (2010) Circulation , vol.122 , pp. 2016-2021
    • Denny, J.C.1
  • 46
    • 84908666048 scopus 로고    scopus 로고
    • Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptbility loci
    • Ritchie, M. D., et al. Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptbility loci. Mol. Vis. 20, 1281-1295 (2014).
    • (2014) Mol. Vis , vol.20 , pp. 1281-1295
    • Ritchie, M.D.1
  • 47
    • 84878832780 scopus 로고    scopus 로고
    • Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records
    • McDavid, A., et al. Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records. PLoS ONE 8, e63481 (2013).
    • (2013) PLoS ONE , vol.8 , pp. e63481
    • McDavid, A.1
  • 48
    • 79955925612 scopus 로고    scopus 로고
    • Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks
    • Turner, S. D., et al. Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks. PLoS ONE 6, e19586 (2011).
    • (2011) PLoS ONE , vol.6 , pp. e19586
    • Turner, S.D.1
  • 49
    • 77958597919 scopus 로고    scopus 로고
    • Leveraging informatics for genetic studies: Use of the electronic medical record to enable a genome-wide association study of peripheral arterial disease
    • Kullo, I. J., et al. Leveraging informatics for genetic studies: use of the electronic medical record to enable a genome-wide association study of peripheral arterial disease. J. Am. Med. Inform. Assoc. 17, 568-574 (2010).
    • (2010) J. Am. Med. Inform. Assoc , vol.17 , pp. 568-574
    • Kullo, I.J.1
  • 50
    • 84857146745 scopus 로고    scopus 로고
    • Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study
    • Kho, A. N., et al. Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study. J. Am. Med. Inform. Assoc. 19, 212-218 (2012).
    • (2012) J. Am. Med. Inform. Assoc , vol.19 , pp. 212-218
    • Kho, A.N.1
  • 51
    • 79952103287 scopus 로고    scopus 로고
    • Gene-environment interactions in human disease: Nuisance or opportunity?
    • Ober, C. & Vercelli, D. Gene-environment interactions in human disease: nuisance or opportunity?. Trends Genet. 27, 107-115 (2011).
    • (2011) Trends Genet , vol.27 , pp. 107-115
    • Ober, C.1    Vercelli, D.2
  • 52
    • 21244440962 scopus 로고    scopus 로고
    • The search for genenotype/phenotype associations and the phenome scan
    • Jones, R., Pembrey, M., Golding, J. & Herrick, D. The search for genenotype/phenotype associations and the phenome scan. Paediatr. Perinatal Epidemiol. 19, 264-275 (2005).
    • (2005) Paediatr. Perinatal Epidemiol , vol.19 , pp. 264-275
    • Jones, R.1    Pembrey, M.2    Golding, J.3    Herrick, D.4
  • 53
    • 0038670579 scopus 로고    scopus 로고
    • The human phenome project
    • Freimer, N. & Sabatti, C. The human phenome project. Nat. Genet. 34, 15-21 (2003).
    • (2003) Nat. Genet , vol.34 , pp. 15-21
    • Freimer, N.1    Sabatti, C.2
  • 54
    • 77952822074 scopus 로고    scopus 로고
    • PheWAS: Demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations
    • Denny, J. C., et al. PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics 26, 1205-1210 (2010).
    • (2010) Bioinformatics , vol.26 , pp. 1205-1210
    • Denny, J.C.1
  • 55
    • 34548299105 scopus 로고    scopus 로고
    • Risk alleles for multiple sclerosis identified by a genomewide study
    • International Multiple Sclerosis Genetics Consortium et al.
    • International Multiple Sclerosis Genetics Consortium et al. Risk alleles for multiple sclerosis identified by a genomewide study. N. Engl. J. Med. 357, 851-862 (2007).
    • (2007) N. Engl. J. Med , vol.357 , pp. 851-862
  • 56
    • 67649876123 scopus 로고    scopus 로고
    • Meta-analysis of genome scans and replication identify CD6 IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci
    • De Jager, P. L., et al. Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nat. Genet. 41, 776-782 (2009).
    • (2009) Nat. Genet , vol.41 , pp. 776-782
    • De Jager, P.L.1
  • 57
    • 84969213492 scopus 로고    scopus 로고
    • Genome-wide association study of 14, 000 cases of seven common diseases and 3, 000 shared controls
    • WTCCC Consortium. Genome-wide 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
    • Consortium, W.1
  • 58
    • 34447515621 scopus 로고    scopus 로고
    • Variants conferring risk of atrial fibrillation on chromosome 4q25
    • Gudbjartsson, D. F., et al. Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature 448, 353-357 (2007).
    • (2007) Nature , vol.448 , pp. 353-357
    • Gudbjartsson, D.F.1
  • 59
    • 68149137739 scopus 로고    scopus 로고
    • A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke
    • Gudbjartsson, D. F., et al. A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke. Nat. Genet. 41, 876-878 (2009).
    • (2009) Nat. Genet , vol.41 , pp. 876-878
    • Gudbjartsson, D.F.1
  • 60
    • 52949111858 scopus 로고    scopus 로고
    • Common variants at CD40 and other loci confer risk of rheumatoid arthritis
    • Raychaudhuri, S., et al. Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat. Genet. 40, 1216-1223 (2008).
    • (2008) Nat. Genet , vol.40 , pp. 1216-1223
    • Raychaudhuri, S.1
  • 61
    • 84890107642 scopus 로고    scopus 로고
    • Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data
    • Denny, J. C., et al. Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat. Biotechnol. 31, 1102-1111 (2013).
    • (2013) Nat. Biotechnol , vol.31 , pp. 1102-1111
    • Denny, J.C.1
  • 62
    • 84898754281 scopus 로고    scopus 로고
    • Pleiotropic effects of genetic risk variants for other cancers on colorectal cancer risk: PAGE GECCO and CCFR consortia
    • Cheng, I., et al. Pleiotropic effects of genetic risk variants for other cancers on colorectal cancer risk: PAGE, GECCO and CCFR consortia. Gut 63, 800-807 (2014).
    • (2014) Gut , vol.63 , pp. 800-807
    • Cheng, I.1
  • 63
    • 84898899793 scopus 로고    scopus 로고
    • Pleiotropic associations of risk variants identified for other cancers with lung cancer risk: The PAGE and TRICL consortia
    • dju061
    • Park, S. L., et al. Pleiotropic associations of risk variants identified for other cancers with lung cancer risk: the PAGE and TRICL consortia. J. Natl Cancer Inst. 106, dju061 (2014).
    • (2014) J. Natl Cancer Inst , vol.106
    • Park, S.L.1
  • 64
    • 84906837946 scopus 로고    scopus 로고
    • Cross-cancer pleiotropic analysis of endometrial cancer: PAGE and E2C2 consortia
    • Setiawan, V. W., et al. Cross-cancer pleiotropic analysis of endometrial cancer: PAGE and E2C2 consortia. Carcinogenesis 35, 2068-2073 (2014).
    • (2014) Carcinogenesis , vol.35 , pp. 2068-2073
    • Setiawan, V.W.1
  • 65
    • 84920201767 scopus 로고    scopus 로고
    • Association of cancer susceptibility variants with risk of multiple primary cancers: The Population Architecture using Genomics and Epidemiology study
    • Park, S. L., et al. Association of cancer susceptibility variants with risk of multiple primary cancers: the Population Architecture using Genomics and Epidemiology study. Cancer Epidemiol. Biomarkers Prev. 23, 2568-2578 (2014).
    • (2014) Cancer Epidemiol. Biomarkers Prev , vol.23 , pp. 2568-2578
    • Park, S.L.1
  • 66
    • 84925690205 scopus 로고    scopus 로고
    • Pleiotropic and sex-specific effects of cancer GWAS SNPs on melanoma risk in the Population Architecture Using Genomics and Epidemiology (PAGE) study
    • Kocarnik, J. M., et al. Pleiotropic and sex-specific effects of cancer GWAS SNPs on melanoma risk in the Population Architecture Using Genomics and Epidemiology (PAGE) study. PLoS ONE 10, e0120491 (2015).
    • (2015) PLoS ONE , vol.10 , pp. e0120491
    • Kocarnik, J.M.1
  • 67
    • 79959912879 scopus 로고    scopus 로고
    • Genome-wide pleiotropy scan identifies HNF1A region as a novel pancreatic cancer susceptibility locus
    • Pierce, B. L. & Ahsan, H. Genome-wide pleiotropy scan identifies HNF1A region as a novel pancreatic cancer susceptibility locus. Cancer Res. 71, 4352-4358 (2011).
    • (2011) Cancer Res , vol.71 , pp. 4352-4358
    • Pierce, B.L.1    Ahsan, H.2
  • 68
    • 84895801008 scopus 로고    scopus 로고
    • A genome-wide pleiotropy scan does not identify new susceptibility for estrogen receptor negative breast cancer
    • Campa, D., et al. A genome-wide pleiotropy scan does not identify new susceptibility for estrogen receptor negative breast cancer. PLoS ONE 9, e85955 (2014).
    • (2014) PLoS ONE , vol.9 , pp. e85955
    • Campa, D.1
  • 69
    • 84923075918 scopus 로고    scopus 로고
    • A genome-wide pleiotropy scan for prostate cancer risk
    • Panagiotou, O. A., et al. A genome-wide pleiotropy scan for prostate cancer risk. Eur. Urol. 67, 649-657 (2015).
    • (2015) Eur. Urol , vol.67 , pp. 649-657
    • Panagiotou, O.A.1
  • 70
    • 80052325959 scopus 로고    scopus 로고
    • Pervasive sharing of genetic effects in autoimmune disease
    • Cotsapas, C., et al. Pervasive sharing of genetic effects in autoimmune disease. PLoS Genet. 7, e1002254 (2011).
    • (2011) PLoS Genet , vol.7 , pp. e1002254
    • Cotsapas, C.1
  • 71
    • 79958154438 scopus 로고    scopus 로고
    • The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery
    • Pendergrass, S. A., et al. The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery. Genet. Epidemiol. 35, 410-422 (2011).
    • (2011) Genet. Epidemiol , vol.35 , pp. 410-422
    • Pendergrass, S.A.1
  • 72
    • 84906273890 scopus 로고    scopus 로고
    • R PheWAS: Data analysis and plotting tools for phenome-wide association studies in the R environment
    • Carroll, R. J., Bastarache, L. & Denny, J. C. R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment. Bioinformatics 30, 2375-2376 (2014).
    • (2014) Bioinformatics , vol.30 , pp. 2375-2376
    • Carroll, R.J.1    Bastarache, L.2    Denny, J.C.3
  • 73
    • 84947060384 scopus 로고    scopus 로고
    • MR PheWAS: Hypothesis prioritization among potential causal effects of body mass index on many outcomes, using Mendelian randomization
    • Millard, L. A. C., et al. MR PheWAS: hypothesis prioritization among potential causal effects of body mass index on many outcomes, using Mendelian randomization. Sci. Rep. 5, 16645 (2015).
    • (2015) Sci. Rep , vol.5 , pp. 16645
    • Millard, L.A.C.1
  • 74
    • 80053206058 scopus 로고    scopus 로고
    • The next PAGE in understanding complex traits: Design for the analysis of population architecture using genetics and epidemiology (PAGE) study
    • Matise, T. C., et al. The next PAGE in understanding complex traits: design for the analysis of population architecture using genetics and epidemiology (PAGE) study. Am. J. Epidemiol. 174, 849-859 (2011).
    • (2011) Am. J. Epidemiol , vol.174 , pp. 849-859
    • Matise, T.C.1
  • 75
    • 65249183403 scopus 로고    scopus 로고
    • Meta-analysis in genome-wide association studies
    • Zeggini, E. & Ioannidis, J. P. Meta-analysis in genome-wide association studies. Pharmacogenomics 10, 191-201 (2009).
    • (2009) Pharmacogenomics , vol.10 , pp. 191-201
    • Zeggini, E.1    Ioannidis, J.P.2
  • 76
    • 84878020180 scopus 로고    scopus 로고
    • Meta-analysis methods for genome-wide association studies and beyond
    • Evangelou, E. & Ioannidis, J. P. A. Meta-analysis methods for genome-wide association studies and beyond. Nat. Rev. Genet. 14, 379-389 (2013).
    • (2013) Nat. Rev. Genet , vol.14 , pp. 379-389
    • Evangelou, E.1    Ioannidis, J.P.A.2
  • 77
    • 84895868553 scopus 로고    scopus 로고
    • Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility
    • DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium et al.
    • DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium et al. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat. Genet. 46, 234-244 (2014).
    • (2014) Nat. Genet , vol.46 , pp. 234-244
  • 78
    • 79959835081 scopus 로고    scopus 로고
    • Genetic determinants of lipid traits in diverse populations from the Population Architecture using Genomics and Epidemiology (PAGE) study
    • Dumitrescu, L., et al. Genetic determinants of lipid traits in diverse populations from the Population Architecture using Genomics and Epidemiology (PAGE) study. PLoS Genet. 7, e1002138 (2011).
    • (2011) PLoS Genet , vol.7 , pp. e1002138
    • Dumitrescu, L.1
  • 79
    • 58149163149 scopus 로고    scopus 로고
    • Common variants at 30 loci contribute to polygenic dyslipidemia
    • Kathiresan, S., et al. Common variants at 30 loci contribute to polygenic dyslipidemia. Nat. Genet. 41, 56-65 (2009).
    • (2009) Nat. Genet , vol.41 , pp. 56-65
    • Kathiresan, S.1
  • 80
    • 84919624872 scopus 로고    scopus 로고
    • Detection of pleiotropy through a phenome-wide association study (PheWAS) of epidemiologic data as part of the Environmental Architecture for Genes Linked to Environment (EAGLE) Study
    • Hall, M. A., et al. Detection of pleiotropy through a phenome-wide association study (PheWAS) of epidemiologic data as part of the Environmental Architecture for Genes Linked to Environment (EAGLE) Study. PLoS Genet. 10, e1004678 (2014).
    • (2014) PLoS Genet , vol.10 , pp. e1004678
    • Hall, M.A.1
  • 81
    • 84899585453 scopus 로고    scopus 로고
    • Investigating the relationship between mitochondrial genetic variation and cardiovascular-related traits to develop a framework for mitochondrial phenome-wide association studies
    • Mitchell, S., et al. Investigating the relationship between mitochondrial genetic variation and cardiovascular-related traits to develop a framework for mitochondrial phenome-wide association studies. BioData Min. 7, 6 (2014).
    • (2014) BioData Min , vol.7 , pp. 6
    • Mitchell, S.1
  • 82
    • 84861958505 scopus 로고    scopus 로고
    • Visually integrating and exploring high throughput phenome-wide association study (PheWAS) results using PheWAS-View
    • Pendergrass, S., Dudek, S., Crawford, D. & Ritchie, M. Visually integrating and exploring high throughput phenome-wide association study (PheWAS) results using PheWAS-View. BioData Min. 5, 5 (2014).
    • (2014) BioData Min , vol.5 , pp. 5
    • Pendergrass, S.1    Dudek, S.2    Crawford, D.3    Ritchie, M.4
  • 83
    • 84902596890 scopus 로고    scopus 로고
    • GWAS in a box: Statistical and visual analytics of structured associations via GenAMap
    • Xing, E. P., et al. GWAS in a box: statistical and visual analytics of structured associations via GenAMap. PLoS ONE 9, e97524 (2014).
    • (2014) PLoS ONE , vol.9 , pp. e97524
    • Xing, E.P.1
  • 84
    • 84877327584 scopus 로고    scopus 로고
    • BioBin: A bioinformatics tools for automating the binning of rare variants using publicly available biological knowledge
    • Moore, C. B., Wallace, J. R., Frase, A. T., Pendergrass, S. A. & Ritchie, M. D. BioBin: a bioinformatics tools for automating the binning of rare variants using publicly available biological knowledge. BMC Med Genomics 6, S6 (2013).
    • (2013) BMC Med Genomics , vol.6 , pp. S6
    • Moore, C.B.1    Wallace, J.R.2    Frase, A.T.3    Pendergrass, S.A.4    Ritchie, M.D.5
  • 85
    • 84905264016 scopus 로고    scopus 로고
    • Pleiotropic genes for metabolic syndrome and inflammation
    • Kraja, A. T., et al. Pleiotropic genes for metabolic syndrome and inflammation. Mol. Genet. Metab. 112, 317-338 (2014).
    • (2014) Mol. Genet. Metab , vol.112 , pp. 317-338
    • Kraja, A.T.1
  • 86
    • 84873488838 scopus 로고    scopus 로고
    • Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network
    • Pendergrass, S. A., et al. Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network. PLoS Genet. 9, e1003087 (2013).
    • (2013) PLoS Genet , vol.9 , pp. e1003087
    • Pendergrass, S.A.1
  • 87
    • 84947866716 scopus 로고    scopus 로고
    • Towards a phenome-wide catalog of human clinical traits impacted by genetic ancestry
    • Dumitrescu, L., et al. Towards a phenome-wide catalog of human clinical traits impacted by genetic ancestry. BioData Min. 8, 35 (2015).
    • (2015) BioData Min , vol.8 , pp. 35
    • Dumitrescu, L.1
  • 88
    • 77951133654 scopus 로고    scopus 로고
    • Genome-wide association studies in diverse populations
    • Rosenberg, N. A., et al. Genome-wide association studies in diverse populations. Nat. Rev. Genet. 11, 356-366 (2010).
    • (2010) Nat. Rev. Genet , vol.11 , pp. 356-366
    • Rosenberg, N.A.1
  • 89
    • 84931427223 scopus 로고    scopus 로고
    • Planning for US Precision Medicine Initiative underway
    • Jaffe, S. Planning for US Precision Medicine Initiative underway. Lancet 385, 2448-2449 (2015).
    • (2015) Lancet , vol.385 , pp. 2448-2449
    • Jaffe, S.1
  • 90
    • 84880328448 scopus 로고    scopus 로고
    • Prevalence of actinic keratosis and its risk factors in the general population: The Rotterdam Study
    • Flohil, S. C., et al. Prevalence of actinic keratosis and its risk factors in the general population: The Rotterdam Study. J. Invest. Dermatol. 133, 1971-1978 (2013).
    • (2013) J. Invest. Dermatol , vol.133 , pp. 1971-1978
    • Flohil, S.C.1
  • 91
    • 44849091227 scopus 로고    scopus 로고
    • A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation
    • Han, J., et al. A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet. 4, e1000074 (2008).
    • (2008) PLoS Genet , vol.4 , pp. e1000074
    • Han, J.1
  • 92
    • 77954167176 scopus 로고    scopus 로고
    • Web-based, participant-driven studies yield novel genetic associations for common traits
    • Eriksson, N., et al. Web-based, participant-driven studies yield novel genetic associations for common traits. PLoS Genet. 6, e1000993 (2010).
    • (2010) PLoS Genet , vol.6 , pp. e1000993
    • Eriksson, N.1
  • 93
    • 84880271272 scopus 로고    scopus 로고
    • Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans
    • Zhang, M., et al. Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. Hum. Mol. Genet. 22, 2948-2959 (2013).
    • (2013) Hum. Mol. Genet , vol.22 , pp. 2948-2959
    • Zhang, M.1
  • 94
    • 84930730324 scopus 로고    scopus 로고
    • IRF4 MC1R and TYR genes are risk factors for actinic keratosis independent of skin color
    • Jacobs, L. C., et al. IRF4, MC1R and TYR genes are risk factors for actinic keratosis independent of skin color. Hum. Mol. Genet. 24, 3296-3303 (2015).
    • (2015) Hum. Mol. Genet , vol.24 , pp. 3296-3303
    • Jacobs, L.C.1
  • 95
    • 80051968181 scopus 로고    scopus 로고
    • Needles in stacks of needles: Finding disease-causal variants in a wealth of genomic data
    • Cooper, G. M. & Shendure, J. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat. Rev. Genet. 12, 628-640 (2011).
    • (2011) Nat. Rev. Genet , vol.12 , pp. 628-640
    • Cooper, G.M.1    Shendure, J.2
  • 96
    • 84946934930 scopus 로고    scopus 로고
    • A GWAS study on liver function test using eMERGE network participants
    • Namjou, B., et al. A GWAS study on liver function test using eMERGE network participants. PLoS ONE 10, e0138677 (2015).
    • (2015) PLoS ONE , vol.10 , pp. e0138677
    • Namjou, B.1
  • 97
    • 80053896220 scopus 로고    scopus 로고
    • Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: Using electronic medical records for genome- and phenome-wide studies
    • Denny, J. C., et al. Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. Am. J. Hum. Genet. 89, 529-542 (2011).
    • (2011) Am. J. Hum. Genet , vol.89 , pp. 529-542
    • Denny, J.C.1
  • 98
    • 84876907114 scopus 로고    scopus 로고
    • PheWAS approach in studying HLA DRB1∗1501
    • Hebbring, S. J., et al. PheWAS approach in studying HLA DRB1∗1501. Genes Immun. 14, 187-191 (2013).
    • (2013) Genes Immun , vol.14 , pp. 187-191
    • Hebbring, S.J.1
  • 99
    • 84906233384 scopus 로고    scopus 로고
    • Phenome wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index
    • Cronin, R. M., et al. Phenome wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index. Front. Genet. 5, 250 (2014).
    • (2014) Front. Genet , vol.5 , pp. 250
    • Cronin, R.M.1
  • 100
    • 84891858260 scopus 로고    scopus 로고
    • A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects
    • Shameer, K., et al. A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. Hum. Genet. 133, 95-109 (2014).
    • (2014) Hum. Genet , vol.133 , pp. 95-109
    • Shameer, K.1
  • 101
    • 84927518293 scopus 로고    scopus 로고
    • Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5 IL13 to eosinophilic esophagitis
    • Namjou, B., et al. Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5 IL13 to eosinophilic esophagitis. Front. Genet. 5, 401 (2014).
    • (2014) Front. Genet , vol.5 , pp. 401
    • Namjou, B.1
  • 102
    • 84924726240 scopus 로고    scopus 로고
    • Phenome-wide association studies (PheWASs) for functional variants
    • Ye, Z., et al. Phenome-wide association studies (PheWASs) for functional variants. Eur. J. Hum. Genet. 23, 523-529 (2015).
    • (2015) Eur. J. Hum. Genet , vol.23 , pp. 523-529
    • Ye, Z.1
  • 103
    • 84874435155 scopus 로고    scopus 로고
    • Associations of autoantibodies, autoimmune risk alleles, and clinical diagnoses from the electronic medical records in rheumatoid arthritis cases and non-rheumatoid arthritis controls
    • Liao, K. P., et al. Associations of autoantibodies, autoimmune risk alleles, and clinical diagnoses from the electronic medical records in rheumatoid arthritis cases and non-rheumatoid arthritis controls. Arthritis Rheum. 65, 571-581 (2013).
    • (2013) Arthritis Rheum , vol.65 , pp. 571-581
    • Liao, K.P.1
  • 104
    • 84892743778 scopus 로고    scopus 로고
    • Phenome-wide association studies on a quantitative trait: Application to TPMT enzyme activity and thiopurine therapy in pharmacogenomics
    • Neuraz, A., et al. Phenome-wide association studies on a quantitative trait: application to TPMT enzyme activity and thiopurine therapy in pharmacogenomics. PLoS Comput. Biol. 9, e1003405 (2013).
    • (2013) PLoS Comput. Biol , vol.9 , pp. e1003405
    • Neuraz, A.1
  • 105
    • 84938084278 scopus 로고    scopus 로고
    • Metrics and tools for consistent cohort discovery and financial analyses post-transition to ICD 10 CM
    • Boyd, A. D., et al. Metrics and tools for consistent cohort discovery and financial analyses post-transition to ICD 10 CM. J. Am. Med. Inform. Assoc. 22, 730-737 (2015).
    • (2015) J. Am. Med. Inform. Assoc , vol.22 , pp. 730-737
    • Boyd, A.D.1
  • 106
    • 84934282787 scopus 로고    scopus 로고
    • ICD 10 CM Crosswalks in the primary care setting: Assessing reliability of the GEMs and reimbursement mappings
    • Turer, R. W., Zuckowsky, T. D., Causey, H. J. & Rosenbloom, S. T. ICD 10 CM Crosswalks in the primary care setting: assessing reliability of the GEMs and reimbursement mappings. J. Am. Med. Inform. Assoc. 22, 417-425 (2015).
    • (2015) J. Am. Med. Inform. Assoc , vol.22 , pp. 417-425
    • Turer, R.W.1    Zuckowsky, T.D.2    Causey, H.J.3    Rosenbloom, S.T.4
  • 107
    • 84931043092 scopus 로고    scopus 로고
    • Application of clinical text data for phenome-wide association studies (PheWASs
    • Hebbring, S. J., et al. Application of clinical text data for phenome-wide association studies (PheWASs). Bioinformatics 31, 1981-1987 (2015).
    • (2015) Bioinformatics , vol.31 , pp. 1981-1987
    • Hebbring, S.J.1
  • 108
    • 33845985619 scopus 로고    scopus 로고
    • Accuracy of administrative coding for type 2 diabetes in children, adolescents, and young adults
    • Rhodes, E. T., Laffel, L. M. B., Gonzalez, T. V. & Ludwig, D. S. Accuracy of administrative coding for type 2 diabetes in children, adolescents, and young adults. Diabetes Care 30, 141-143 (2007).
    • (2007) Diabetes Care , vol.30 , pp. 141-143
    • Rhodes, E.T.1    Laffel, L.M.B.2    Gonzalez, T.V.3    Ludwig, D.S.4
  • 109
    • 84890541415 scopus 로고    scopus 로고
    • A comparison of phenotype definitions for diabetes mellitus
    • Richesson, R. L., et al. A comparison of phenotype definitions for diabetes mellitus. J. Am. Med. Inform. Assoc. 20, e319-e326 (2013).
    • (2013) J. Am. Med. Inform. Assoc , vol.20 , pp. e319-e326
    • Richesson, R.L.1
  • 110
    • 77950338000 scopus 로고    scopus 로고
    • Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record
    • Ritchie, M. D., et al. Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record. Am. J. Hum. Genet. 86, 560-572 (2010).
    • (2010) Am. J. Hum. Genet , vol.86 , pp. 560-572
    • Ritchie, M.D.1
  • 111
    • 85012150933 scopus 로고    scopus 로고
    • Testing population-specific quantitative trait associations for clinical outcome relevance in a biorepository linked to electronic health records: LPA and myocardial infarction in African Americans
    • Dumitrescu, L., Diggins, K. E., Goodloe, R. & Crawford, D. C. Testing population-specific quantitative trait associations for clinical outcome relevance in a biorepository linked to electronic health records: LPA and myocardial infarction in African Americans. Pac. Symp. Biocomput. 21, 96-107 (2016).
    • (2016) Pac. Symp. Biocomput , vol.21 , pp. 96-107
    • Dumitrescu, L.1    Diggins, K.E.2    Goodloe, R.3    Crawford, D.C.4
  • 113
    • 84882752871 scopus 로고    scopus 로고
    • ICD 9 tobacco use codes are effective identifiers of smoking status
    • Wiley, L. K., Shah, A., Xu, H. & Bush, W. S. ICD 9 tobacco use codes are effective identifiers of smoking status. J. Am. Med. Inform. Assoc. 20, 652-658 (2013).
    • (2013) J. Am. Med. Inform. Assoc , vol.20 , pp. 652-658
    • Wiley, L.K.1    Shah, A.2    Xu, H.3    Bush, W.S.4
  • 114
    • 84905884395 scopus 로고    scopus 로고
    • Utilization of an EMR-biorepository to identify the genetic predictors of calcineurin-inhibitor toxicity in heart transplant recipients
    • Oetjens, M., et al. Utilization of an EMR-biorepository to identify the genetic predictors of calcineurin-inhibitor toxicity in heart transplant recipients. Pac. Symp. Biocomput 2014, 253-264 (2014).
    • (2014) Pac. Symp. Biocomput 2014 , pp. 253-264
    • Oetjens, M.1
  • 115
    • 84936855143 scopus 로고    scopus 로고
    • Extracting primary open-angle glaucoma from electronic medical records for genetic association studies
    • Restrepo, N. A., Farber-Eger, E., Goodloe, R., Haines, J. L. & Crawford, D. C. Extracting primary open-angle glaucoma from electronic medical records for genetic association studies. PLoS ONE 10, e0127817 (2015).
    • (2015) PLoS ONE , vol.10 , pp. e0127817
    • Restrepo, N.A.1    Farber-Eger, E.2    Goodloe, R.3    Haines, J.L.4    Crawford, D.C.5
  • 116
    • 84890524645 scopus 로고    scopus 로고
    • Automated extraction of clinical traits of multiple sclerosis in electronic medical records
    • Davis, M. F. Sriram, S., Bush, W. S., Denny, J. C. & Haines, J. L. Automated extraction of clinical traits of multiple sclerosis in electronic medical records. J. Am. Med. Inform. Assoc. 20, e334-e340 (2013)
    • (2013) J. Am. Med. Inform. Assoc , vol.20 , pp. e334-e340
    • Davis Sriram F M, S.1    Bush, W.S.2    Denny, J.C.3    Haines, J.L.4
  • 117
    • 33947224159 scopus 로고    scopus 로고
    • Construction of atorvastatin dose-response relationships using data from a large population-based DNA biobank
    • Peissig, P., et al. Construction of atorvastatin dose-response relationships using data from a large population-based DNA biobank. Bas. Clin. Pharmacol. Toxicol. 100, 286-288 (2007
    • (2007) Bas. Clin. Pharmacol. Toxicol , vol.100 , pp. 286-288
    • Peissig, P.1
  • 118
    • 84934290752 scopus 로고    scopus 로고
    • Seeing the forest through the trees: Uncovering phenomic complexity through interactive network visualization
    • Warner, J. L., Denny, J. C., Kreda, D. A. & Alterovitz, G. Seeing the forest through the trees: uncovering phenomic complexity through interactive network visualization. J. Am. Med. Inform. Assoc. 22, 324-329 (2015).
    • (2015) J. Am. Med. Inform. Assoc , vol.22 , pp. 324-329
    • Warner, J.L.1    Denny, J.C.2    Kreda, D.A.3    Alterovitz, G.4
  • 119
    • 84954218290 scopus 로고    scopus 로고
    • Toward high-throughput phenotyping: Unbiased automated feature extraction and selection from knowledge sources
    • Yu, S., et al. Toward high-throughput phenotyping: unbiased automated feature extraction and selection from knowledge sources. J. Am. Med. Inform. Assoc. 22, 993-1000 (2015).
    • (2015) J. Am. Med. Inform. Assoc , vol.22 , pp. 993-1000
    • Yu, S.1
  • 120
    • 84879468407 scopus 로고    scopus 로고
    • Computational phenotype discovery using unsupervised feature learning over noisy, sparse, and irregular clinical data
    • Lasko, T. A., Denny, J. C. & Levy, M. A. Computational phenotype discovery using unsupervised feature learning over noisy, sparse, and irregular clinical data. PLoS ONE 8, e66341 (2013).
    • (2013) PLoS ONE , vol.8 , pp. e66341
    • Lasko, T.A.1    Denny, J.C.2    Levy, M.A.3
  • 121
    • 84922211548 scopus 로고    scopus 로고
    • Finding our way through phenotypes
    • Deans, A. R., et al. Finding our way through phenotypes. PLoS Biol. 13, e1002033 (2015).
    • (2015) PLoS Biol , vol.13 , pp. e1002033
    • Deans, A.R.1
  • 122
    • 79952503255 scopus 로고    scopus 로고
    • Phenotype harmonization and cross-study collaboration in GWAS consortia: The GENEVA experience
    • Bennett, S. N., et al. Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience. Genet. Epidemiol. 35, 159-173 (2011).
    • (2011) Genet. Epidemiol , vol.35 , pp. 159-173
    • Bennett, S.N.1
  • 123
    • 84862993403 scopus 로고    scopus 로고
    • Facilitating collaborative research: Implementing a platform supporting data harmonization and pooling
    • Doiron, D., Raina, P., Ferretti, V., L'Heureux, F. & Fortier, I. Facilitating collaborative research: implementing a platform supporting data harmonization and pooling. Nor. Epidemiol. 21, 221-224 (2012).
    • (2012) Nor. Epidemiol , vol.21 , pp. 221-224
    • Doiron, D.1    Raina, P.2    Ferretti, V.3    L'Heureux, F.4    Fortier, I.5
  • 124
    • 84958599888 scopus 로고    scopus 로고
    • Strategies for handling missing data in electronic health record derived data
    • Wells, B. J., Chagin, K. M., Nowacki, A. S. & Kattan, M. W. Strategies for handling missing data in electronic health record derived data. EGEMS (Wash. DC) 1, 1035 (2013).
    • (2013) EGEMS (Wash. DC) , vol.1 , pp. 1035
    • Wells, B.J.1    Chagin, K.M.2    Nowacki, A.S.3    Kattan, M.W.4
  • 125
    • 80055080543 scopus 로고    scopus 로고
    • A phenomics-based strategy identifies loci on APOC1 BRAP and PLCG1 associated with metabolic syndrome phenotype domains
    • Avery, C. L., et al. A phenomics-based strategy identifies loci on APOC1, BRAP, and PLCG1 associated with metabolic syndrome phenotype domains. PLoS Genet. 7, e1002322 (2011).
    • (2011) PLoS Genet , vol.7 , pp. e1002322
    • Avery, C.L.1
  • 126
  • 127
    • 84908890496 scopus 로고    scopus 로고
    • Defining the role of common variation in the genomic and biological architecture of adult human height
    • Wood, A. R., et al. Defining the role of common variation in the genomic and biological architecture of adult human height. Nat. Genet. 46, 1173-1186 (2014).
    • (2014) Nat. Genet , vol.46 , pp. 1173-1186
    • Wood, A.R.1
  • 128
    • 84923171580 scopus 로고    scopus 로고
    • Genetic studies of body mass index yield new insights for obesity biology
    • Locke, A. E., et al. Genetic studies of body mass index yield new insights for obesity biology. Nature 518, 197-206 (2015).
    • (2015) Nature , vol.518 , pp. 197-206
    • Locke, A.E.1
  • 129
    • 84901285890 scopus 로고    scopus 로고
    • A rigorous algorithm to detect and clean inaccurate adult height records within EHR systems
    • Muthalagu, A., et al. A rigorous algorithm to detect and clean inaccurate adult height records within EHR systems. Appl. Clin. Inform. 5, 118-126 (2014).
    • (2014) Appl. Clin. Inform , vol.5 , pp. 118-126
    • Muthalagu, A.1
  • 130
    • 84988877020 scopus 로고    scopus 로고
    • Extraction of echocardiographic data from the electronic medical record is a rapid and efficient method for study of cardiac structure and function
    • Wells, Q., Farber-Eger, E. & Crawford, D. Extraction of echocardiographic data from the electronic medical record is a rapid and efficient method for study of cardiac structure and function. J. Clin. Bioinforma. 4, 12 (2014).
    • (2014) J. Clin. Bioinforma , vol.4 , pp. 12
    • Wells, Q.1    Farber-Eger, E.2    Crawford, D.3
  • 131
    • 0037126526 scopus 로고    scopus 로고
    • Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults
    • National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) Adult Treatment Panel III) Final Report
    • National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III). Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) Final Report. Circulation 106, 3143-3421 (2002).
    • (2002) Circulation , vol.106 , pp. 3143-3421
  • 132
    • 34548516061 scopus 로고    scopus 로고
    • Identifying patient smoking status from medical discharge records
    • Uzuner, O., Goldstein, I., Luo, Y. & Kohane, I. Identifying patient smoking status from medical discharge records. J. Am. Med. Inform. Assoc. 15, 14-24 (2008).
    • (2008) J. Am. Med. Inform. Assoc , vol.15 , pp. 14-24
    • Uzuner, O.1    Goldstein, I.2    Luo, Y.3    Kohane, I.4
  • 133
    • 63449125469 scopus 로고    scopus 로고
    • Linkage of the Third National Health and Nutrition Examination Survey to air quality data
    • Kravets, N. & Parker, J. D. Linkage of the Third National Health and Nutrition Examination Survey to air quality data. Vital Health Stat 2 149, 1-16, (2008).
    • (2008) Vital Health Stat , vol.2 , Issue.149 , pp. 1-16
    • Kravets, N.1    Parker, J.D.2
  • 134
    • 84872779746 scopus 로고    scopus 로고
    • Linkage of the 1999-2008 National Health and Nutrition Examination Surveys to traffic indicators from the National Highway Planning Network
    • Parker, J. D., Kravets, N., Nachman, K. & Sapkota, A. Linkage of the 1999-2008 National Health and Nutrition Examination Surveys to traffic indicators from the National Highway Planning Network. Natl Health Stat. Rep. 45, 1-16 (2012).
    • (2012) Natl Health Stat. Rep , vol.45 , pp. 1-16
    • Parker, J.D.1    Kravets, N.2    Nachman, K.3    Sapkota, A.4
  • 135
    • 84892407793 scopus 로고    scopus 로고
    • Validation of PhenX measures in the personalized medicine research project for use in gene/ environment studies
    • McCarty, C., et al. Validation of PhenX measures in the personalized medicine research project for use in gene/ environment studies. BMC Medical Genomics 7, 3 (2014).
    • (2014) BMC Medical Genomics , vol.7 , pp. 3
    • McCarty, C.1
  • 136
    • 79251591943 scopus 로고    scopus 로고
    • Dietary intake in the Personalized Medicine Research Project: A resource for studies of gene-diet interaction
    • Strobush, L., et al. Dietary intake in the Personalized Medicine Research Project: a resource for studies of gene-diet interaction. Nutr. J. 10, 13 (2011).
    • (2011) Nutr. J. , vol.10 , pp. 13
    • Strobush, L.1
  • 137
    • 84901191649 scopus 로고    scopus 로고
    • Community-level determinants of obesity: Harnessing the power of electronic health records for retrospective data analysis
    • Roth, C., Foraker, R., Payne, P. & Embi, P. Community-level determinants of obesity: harnessing the power of electronic health records for retrospective data analysis. BMC Med. Inform. Decis. Mak. 14, 36 (2014).
    • (2014) BMC Med. Inform. Decis. Mak , vol.14 , pp. 36
    • Roth, C.1    Foraker, R.2    Payne, P.3    Embi, P.4
  • 138
    • 80053366077 scopus 로고    scopus 로고
    • Body mass index and the built and social environments in children and adolescents using electronic health records
    • Schwartz, B. S., et al. Body mass index and the built and social environments in children and adolescents using electronic health records. Am. J. Prev. Med. 41, e17-e28 (2011).
    • (2011) Am. J. Prev. Med , vol.41 , pp. e17-e28
    • Schwartz, B.S.1
  • 139
    • 84905890259 scopus 로고    scopus 로고
    • Environment-wide association study (EWAS) for type 2 diabetes in the Marshfield Personalized Medicine Research Project Biobank
    • 2014
    • Hall, M. A., et al. Environment-wide association study (EWAS) for type 2 diabetes in the Marshfield Personalized Medicine Research Project Biobank. Pac. Symp. Biocomput. 2014, 200-211 (2014).
    • (2014) Pac. Symp. Biocomput , pp. 200-211
    • Hall, M.A.1
  • 140
    • 77953886372 scopus 로고    scopus 로고
    • An environment-wide association study (EWAS) on type 2 diabetes mellitus
    • Patel, C. J., Bhattacharya, J. & Butte, A. J. An environment-wide association study (EWAS) on type 2 diabetes mellitus. PLoS ONE 5, e10746 (2010).
    • (2010) PLoS ONE , vol.5 , pp. e10746
    • Patel, C.J.1    Bhattacharya, J.2    Butte, A.J.3
  • 141
    • 84876500725 scopus 로고    scopus 로고
    • Systematic identification of interaction effects between genome- and environment-wide associations in type 2 diabetes mellitus
    • Patel, C., Chen, R., Kodama, K., Ioannidis, J. & Butte, A. Systematic identification of interaction effects between genome- and environment-wide associations in type 2 diabetes mellitus. Hum. Genet. 132, 495-508 (2013).
    • (2013) Hum. Genet , vol.132 , pp. 495-508
    • Patel, C.1    Chen, R.2    Kodama, K.3    Ioannidis, J.4    Butte, A.5
  • 142
    • 84971326365 scopus 로고    scopus 로고
    • Development of exposome correlation globes to map out environment-wide associations
    • Patel, C. J. & Manrai, A. K. Development of exposome correlation globes to map out environment-wide associations. Pac. Symp. Biocomput 2015, 231-242 (2015).
    • (2015) Pac. Symp. Biocomput , vol.2015 , pp. 231-242
    • Patel, C.J.1    Manrai, A.K.2
  • 143
    • 84858433310 scopus 로고    scopus 로고
    • Personal omics profiling reveals dynamic molecular and medical phenotypes
    • Chen, R., et al. Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell 148, 1293-1307 (2012).
    • (2012) Cell , vol.148 , pp. 1293-1307
    • Chen, R.1
  • 144
    • 84924295546 scopus 로고    scopus 로고
    • Incorporating temporal EHR data in predictive models for risk stratification of renal function deterioration
    • Singh, A., et al. Incorporating temporal EHR data in predictive models for risk stratification of renal function deterioration. J. Biomed. Inform. 53, 220-228 (2015).
    • (2015) J. Biomed. Inform , vol.53 , pp. 220-228
    • Singh, A.1
  • 145
    • 84914815797 scopus 로고    scopus 로고
    • Generalized estimating equations for genome-wide association studies using longitudinal phenotype data
    • Sitlani, C. M., et al. Generalized estimating equations for genome-wide association studies using longitudinal phenotype data. Stat. Med. 34, 118-130 (2015).
    • (2015) Stat. Med , vol.34 , pp. 118-130
    • Sitlani, C.M.1
  • 146
    • 84978328033 scopus 로고    scopus 로고
    • Phenome-wide association study relating pretreatment laboratory parameters with human genetic variants in AIDS clinical trails group protocols
    • ofu113
    • Moore, C. B., et al. Phenome-wide association study relating pretreatment laboratory parameters with human genetic variants in AIDS clinical trails group protocols. Open Forum Infect. Dis. 2, ofu113 (2015).
    • (2015) Open Forum Infect. Dis , vol.2
    • Moore, C.B.1
  • 147
    • 77950477064 scopus 로고    scopus 로고
    • MedEx: A medication information extraction system for clinical narratives
    • Xu, H., et al. MedEx: a medication information extraction system for clinical narratives. J. Am. Med. Inform. Assoc. 17, 19-24 (2010).
    • (2010) J. Am. Med. Inform. Assoc , vol.17 , pp. 19-24
    • Xu, H.1
  • 148
    • 84906323732 scopus 로고    scopus 로고
    • MedXN: An open source medication extraction and normalization tool for clinical text
    • Sohn, S., et al. MedXN: an open source medication extraction and normalization tool for clinical text. J. Am. Med. Inform. Assoc. 21, 858-865 (2014).
    • (2014) J. Am. Med. Inform. Assoc , vol.21 , pp. 858-865
    • Sohn, S.1
  • 150
    • 79953317220 scopus 로고    scopus 로고
    • Study newsletters, community and ethics advisory boards, and focus group discussions provide ongoing feedback for a large biobank
    • Personalized Medicine Research Project Community Advisory Group and Ethics and Security Advisory Board
    • McCarty C. A., Garber, A., Reeser, J. C., Fost, N. C. & Personalized Medicine Research Project Community Advisory Group and Ethics and Security Advisory Board. Study newsletters, community and ethics advisory boards, and focus group discussions provide ongoing feedback for a large biobank. Am. J. Med. Genet. 155, 737-741 (2011).
    • (2011) Am. J. Med. Genet , vol.155 , pp. 737-741
    • McCarty, C.A.1    Garber, A.2    Reeser, J.C.3    Fost, N.C.4
  • 151
    • 84862536361 scopus 로고    scopus 로고
    • Informed consent: A broken contract
    • Hayden, E. C. Informed consent: a broken contract. Nature 486, 312-314 (2012).
    • (2012) Nature , vol.486 , pp. 312-314
    • Hayden, E.C.1
  • 152
    • 84949444244 scopus 로고    scopus 로고
    • Reform of clinical research regulations, finally
    • Emanuel, E. J. Reform of clinical research regulations, finally. N. Engl. J. Med. 373, 2296-2299 (2015).
    • (2015) N. Engl. J. Med , vol.373 , pp. 2296-2299
    • Emanuel, E.J.1
  • 153
    • 84885127320 scopus 로고    scopus 로고
    • Ethical, legal, and social implications of incorporating genomic information into electronic health records
    • Hazin, R., et al. Ethical, legal, and social implications of incorporating genomic information into electronic health records. Genet. Med. 15, 810-816 (2013).
    • (2013) Genet. Med , vol.15 , pp. 810-816
    • Hazin, R.1
  • 154
    • 80053335117 scopus 로고    scopus 로고
    • Identifiability in biobanks: Models, measures, and mitigation strategies
    • Malin, B., Loukides, G., Benitez, K. & Clayton, E. Identifiability in biobanks: models, measures, and mitigation strategies. Hum. Genet. 130, 383-392 (2011).
    • (2011) Hum. Genet , vol.130 , pp. 383-392
    • Malin, B.1    Loukides, G.2    Benitez, K.3    Clayton, E.4
  • 156
    • 84902271056 scopus 로고    scopus 로고
    • Return of genomic results to research participants: The floor, the ceiling, and the choices in between
    • Jarvik, G. P., et al. Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Am. J. Hum. Genet. 94, 818-826 (2014).
    • (2014) Am. J. Hum. Genet , vol.94 , pp. 818-826
    • Jarvik, G.P.1
  • 157
    • 84859619831 scopus 로고    scopus 로고
    • Return of individual research results from genome-wide association studies: Experience of the Electronic Medical Records and Genomics (eMERGE) Network
    • Fullerton, S. M., et al. Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network. Genet. Med. 14, 424-431 (2012).
    • (2012) Genet. Med , vol.14 , pp. 424-431
    • Fullerton, S.M.1
  • 159
    • 85031964266 scopus 로고    scopus 로고
    • Learning phenotype mapping for integrating large genetic data
    • Hsu, C. N., et al. Learning phenotype mapping for integrating large genetic data. Proceedings of BioNLP 2011 Workshop [online], http: //www.aclweb.org/ anthology/W/W11/W11-0203.pdf (2011).
    • (2011) Proceedings of BioNLP 2011 Workshop [Online]
    • Hsu, C.N.1
  • 160
    • 84891749517 scopus 로고    scopus 로고
    • The Human Phenotype Ontology project: Linking molecular biology and disease through phenotype data
    • Kohler, 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
    • Kohler, S.1
  • 161
    • 84937523757 scopus 로고    scopus 로고
    • The Human Phenotype Ontology: Semantic unification of common and rare disease
    • Groza, T., et al. The Human Phenotype Ontology: semantic unification of common and rare disease. Am. J. Hum. Genet. 97, 111-124 (2015).
    • (2015) Am. J. Hum. Genet , vol.97 , pp. 111-124
    • Groza, T.1
  • 162
    • 34748848639 scopus 로고    scopus 로고
    • The NCBI dbGaP database of genotypes and phenotypes
    • Mailman, M. D., et al. The NCBI dbGaP database of genotypes and phenotypes. Nat. Genet. 39, 1181-1186 (2007).
    • (2007) Nat. Genet , vol.39 , pp. 1181-1186
    • Mailman, M.D.1
  • 163
    • 84891750628 scopus 로고    scopus 로고
    • NCBI's Database of Genotypes and Phenotypes: DbGaP
    • Tryka, K. A., et al. NCBI's Database of Genotypes and Phenotypes: dbGaP. Nucleic Acids Res. 42, D975-D979 (2014).
    • (2014) Nucleic Acids Res , vol.42 , pp. D975-D979
    • Tryka, K.A.1
  • 164
    • 79960823864 scopus 로고    scopus 로고
    • The PhenX Toolki: Get the most from your measures
    • Hamilton, C. M., et al. The PhenX Toolki: get the most from your measures. Am. J. Epidemiol. 174, 253-260 (2011).
    • (2011) Am. J. Epidemiol , vol.174 , pp. 253-260
    • Hamilton, C.M.1
  • 165
    • 84864338647 scopus 로고    scopus 로고
    • Using PhenX measures to identify opportunities for cross-study analysis
    • Pan, H., et al. Using PhenX measures to identify opportunities for cross-study analysis. Hum. Mutat. 33, 849-857 (2012).
    • (2012) Hum. Mutat , vol.33 , pp. 849-857
    • Pan, H.1
  • 166
    • 84860473457 scopus 로고    scopus 로고
    • MultiPhen: Joint model of multiple phenotypes can increase discovery in GWAS
    • O'Reilly, P. F., et al. MultiPhen: joint model of multiple phenotypes can increase discovery in GWAS. PLoS ONE 7, e34861 (2012).
    • (2012) PLoS ONE , vol.7 , pp. e34861
    • O'Reilly, P.F.1
  • 167
    • 58049204427 scopus 로고    scopus 로고
    • A multivariate test of association
    • Ferreira, M. A. R. & Purcell, S. M. A multivariate test of association. Bioinformatics 25, 132-133 (2009).
    • (2009) Bioinformatics , vol.25 , pp. 132-133
    • Ferreira, M.A.R.1    Purcell, S.M.2
  • 168
    • 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
  • 169
    • 38149020685 scopus 로고    scopus 로고
    • Pleiotropy and principal components of heritability combine to increase power for association analysis
    • Klei, L., Luca, D., Devlin, B. & Roeder, K. Pleiotropy and principal components of heritability combine to increase power for association analysis. Genet. Epidemiol. 32, 9-19 (2008).
    • (2008) Genet. Epidemiol , vol.32 , pp. 9-19
    • Klei, L.1    Luca, D.2    Devlin, B.3    Roeder, K.4
  • 170
    • 84873489284 scopus 로고    scopus 로고
    • TATES: Efficient multivariate genotype-phenotype analysis for genome-wide association studies
    • Van Der Sluis, S., Posthuma, D. & Dolan, C. V. TATES: efficient multivariate genotype-phenotype analysis for genome-wide association studies. PLoS Genet. 9, e1003235 (2013).
    • (2013) PLoS Genet , vol.9 , pp. e1003235
    • Van Der Sluis, S.1    Posthuma, D.2    Dolan, C.V.3
  • 172
    • 66249095158 scopus 로고    scopus 로고
    • Bivariate association analyses for the mixture of continuous and binary traits with the use of extended generalized estimating equations
    • Liu, J., Pei, Y., Chris, J. & Deng, H. W. Bivariate association analyses for the mixture of continuous and binary traits with the use of extended generalized estimating equations. Genet. Epidemiol. 33, 217-227 (2009).
    • (2009) Genet. Epidemiol , vol.33 , pp. 217-227
    • Liu, J.1    Pei, Y.2    Chris, J.3    Deng, H.W.4
  • 173
    • 85031965943 scopus 로고    scopus 로고
    • The precision medicine initiative cohort program - Building a research foundation for 21st century medicine
    • Precision Medicine Initiative (PMI) Working Group
    • Precision Medicine Initiative (PMI) Working Group. The precision medicine initiative cohort program - building a research foundation for 21st century medicine. National Institutes of Health [online], http: //acd.od.nih.gov/reports/DRAFT-PMI-WG-Report-9-11-2015-508.pdf (2015).
    • (2015) National Institutes of Health [Online]
  • 174
    • 84939140053 scopus 로고    scopus 로고
    • News from the NIH: Potential contributions of the behavioral and social sciences to the precision medicine initiative
    • Riley, W. T., Nilsen, W. J., Manolio, T. A., Masys, D. R. & Lauer, M. News from the NIH: potential contributions of the behavioral and social sciences to the precision medicine initiative. Transl. Behav. Med. 5, 243-246 (2015).
    • (2015) Transl. Behav. Med , Issue.5 , pp. 243-246
    • Riley, W.T.1    Nilsen, W.J.2    Manolio, T.A.3    Masys, D.R.4    Lauer, M.5
  • 175
    • 84859215798 scopus 로고    scopus 로고
    • What makes UK Biobank special?
    • Collins, R. What makes UK Biobank special?. Lancet 379, 1173-1174 (2012).
    • (2012) Lancet , vol.379 , pp. 1173-1174
    • Collins, R.1
  • 176
    • 84906250701 scopus 로고    scopus 로고
    • Emergeing progress in genomics - The first seven years
    • Crawford, D. C., et al. eMERGEing progress in genomics - The first seven years. Front. Genet. 5, 184 (2014).
    • (2014) Front. Genet , vol.5 , pp. 184
    • Crawford, D.C.1
  • 177
    • 84949426468 scopus 로고    scopus 로고
    • Bringing the Common Rule into the 21st Century
    • Hudson, K. L. & Collins, F. S. Bringing the Common Rule into the 21st Century. N. Engl. J. Med. 373, 2293-2296 (2015
    • (2015) N. Engl. J. Med , vol.373 , pp. 2293-2296
    • Hudson, K.L.1    Collins, F.S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.