-
1
-
-
67249117049
-
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
-
Hindorff, L.A. et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl. Acad. Sci. USA 106, 9362-9367 (2009
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 9362-9367
-
-
Hindorff, L.A.1
-
2
-
-
34250010480
-
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
-
3
-
-
38649091662
-
The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm
-
Helgadottir, A. et al. The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Nat. Genet. 40, 217-224 (2008
-
(2008)
Nat. Genet
, vol.40
, pp. 217-224
-
-
Helgadottir, A.1
-
4
-
-
80655149205
-
New IBD genetics: Common pathways with other diseases
-
Lees, C.W., Barrett, J.C., Parkes, M. & Satsangi, J. New IBD genetics: Common pathways with other diseases. Gut 60, 1739-1753 (2011
-
(2011)
Gut
, vol.60
, pp. 1739-1753
-
-
Lees, C.W.1
Barrett, J.C.2
Parkes, M.3
Satsangi, J.4
-
5
-
-
80052325959
-
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
-
-
Cotsapas, C.1
-
6
-
-
84855257058
-
A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap
-
Ramos, P.S. et al. A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap. PLoS Genet. 7, e1002406 (2011
-
(2011)
PLoS Genet
, vol.7
-
-
Ramos, P.S.1
-
7
-
-
62549085618
-
Human genetic variation and its contribution to complex traits
-
Frazer, K.A., Murray, S.S., Schork, N.J. & Topol, E.J. Human genetic variation and its contribution to complex traits. Nat. Rev. Genet. 10, 241-251 (2009
-
(2009)
Nat. Rev. Genet
, vol.10
, pp. 241-251
-
-
Frazer, K.A.1
Murray, S.S.2
Schork, N.J.3
Topol, E.J.4
-
8
-
-
80955135827
-
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
-
9
-
-
77952822074
-
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
-
10
-
-
84873488838
-
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
-
-
Pendergrass, S.A.1
-
11
-
-
80053896220
-
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
-
12
-
-
84875931887
-
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
-
13
-
-
84876907114
-
A PheWAS approach in studying HLA-DRB1*1501
-
Hebbring, S.J. et al. A 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
-
14
-
-
79251581866
-
The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies
-
McCarty, C.A. et al. The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med. Genomics 4, 13 (2011
-
(2011)
BMC Med. Genomics
, vol.4
, pp. 13
-
-
McCarty, C.A.1
-
15
-
-
84857146745
-
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
-
16
-
-
84875474595
-
Automated detection and classification of type 1 versus type 2 diabetes using electronic health record data
-
10.2337/dc12-0964
-
Klompas, M. et al. Automated detection and classification of type 1 versus type 2 diabetes using electronic health record data. Diabetes Care 10.2337/dc12-0964 (2012
-
Diabetes Care
, vol.2012
-
-
Klompas, M.1
-
17
-
-
58549107002
-
MHC fine mapping of human type 1 diabetes using the T1DGC data
-
He, C. et al. MHC fine mapping of human type 1 diabetes using the T1DGC data. Diabetes Obes. Metab. 11 (suppl. 1), 53-59 (2009
-
(2009)
Diabetes Obes. Metab
, vol.11
, Issue.SUPPL. 1
, pp. 53-59
-
-
He, C.1
-
18
-
-
34548849168
-
TRAF1-C5 as a risk locus for rheumatoid arthritis-A genomewide study
-
Plenge, R.M. et al. TRAF1-C5 as a risk locus for rheumatoid arthritis-A genomewide study. N. Engl. J. Med. 357, 1199-1209 (2007
-
(2007)
N. Engl. J. Med
, vol.357
, pp. 1199-1209
-
-
Plenge, R.M.1
-
19
-
-
74949090955
-
A genome-wide association analysis of serum iron concentrations
-
Tanaka, T. et al. A genome-wide association analysis of serum iron concentrations. Blood 115, 94-96 (2010
-
(2010)
Blood
, vol.115
, pp. 94-96
-
-
Tanaka, T.1
-
20
-
-
67651056502
-
Meta-Analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations
-
Kolz, M. et al. Meta-Analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet. 5, e1000504 (2009
-
(2009)
PLoS Genet
, vol.5
-
-
Kolz, M.1
-
21
-
-
84878832780
-
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
-
-
McDavid, A.1
-
23
-
-
79952227506
-
A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus
-
Han, J. et al. A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus. Cancer Res. 71, 1533-1539 (2011
-
(2011)
Cancer Res
, vol.71
, pp. 1533-1539
-
-
Han, J.1
-
24
-
-
45549097424
-
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma
-
Gudbjartsson, D.F. et al. ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nat. Genet. 40, 886-891 (2008
-
(2008)
Nat. Genet
, vol.40
, pp. 886-891
-
-
Gudbjartsson, D.F.1
-
25
-
-
77952564907
-
Does MC1R genotype convey information about melanoma risk beyond risk phenotypes?
-
Kanetsky, P.A. et al. Does MC1R genotype convey information about melanoma risk beyond risk phenotypes? Cancer 116, 2416-2428 (2010
-
(2010)
Cancer
, vol.116
, pp. 2416-2428
-
-
Kanetsky, P.A.1
-
26
-
-
65249119617
-
Exploring clinical associations using '-omics' based enrichment analyses
-
Hanauer, D.A., Rhodes, D.R. & Chinnaiyan, A.M. Exploring clinical associations using '-omics' based enrichment analyses. PLoS ONE 4, e5203 (2009
-
(2009)
PLoS ONE
, vol.4
-
-
Hanauer, D.A.1
Rhodes, D.R.2
Chinnaiyan, A.M.3
-
27
-
-
80052329143
-
Using electronic patient records to discover disease correlations and stratify patient cohorts
-
Roque, F.S. et al. Using electronic patient records to discover disease correlations and stratify patient cohorts. PLoS Comput. Biol. 7, e1002141 (2011
-
(2011)
PLoS Comput. Biol
, vol.7
-
-
Roque, F.S.1
-
28
-
-
34547488336
-
Probing genetic overlap among complex human phenotypes
-
Rzhetsky, A., Wajngurt, D., Park, N. & Zheng, T. Probing genetic overlap among complex human phenotypes. Proc. Natl. Acad. Sci. USA 104, 11694-11699 (2007
-
(2007)
Proc. Natl. Acad. Sci. USA
, vol.104
, pp. 11694-11699
-
-
Rzhetsky, A.1
Wajngurt, D.2
Park, N.3
Zheng, T.4
-
29
-
-
79960700796
-
Next generation genome-wide association tool: Design and coverage of a high-Throughput European-optimized SNP array
-
Hoffmann, T.J. et al. Next generation genome-wide association tool: Design and coverage of a high-Throughput European-optimized SNP array. Genomics 98, 79-89 (2011
-
(2011)
Genomics
, vol.98
, pp. 79-89
-
-
Hoffmann, T.J.1
-
30
-
-
84859215798
-
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
-
31
-
-
77955295667
-
The 'meaningful use' regulation for electronic health records
-
Blumenthal, D. & Tavenner, M. The 'meaningful use' regulation for electronic health records. N. Engl. J. Med. 363, 501-504 (2010
-
(2010)
N. Engl. J. Med
, vol.363
, pp. 501-504
-
-
Blumenthal, D.1
Tavenner, M.2
-
32
-
-
4544280638
-
Automated encoding of clinical documents based on natural language processing
-
Friedman, C., Shagina, L., Lussier, Y. & Hripcsak, G. Automated encoding of clinical documents based on natural language processing. J. Am. Med. Inform. Assoc. 11, 392-402 (2004
-
(2004)
J. Am. Med. Inform. Assoc
, vol.11
, pp. 392-402
-
-
Friedman, C.1
Shagina, L.2
Lussier, Y.3
Hripcsak, G.4
-
33
-
-
79951811383
-
The emerging role of electronic medical records in pharmacogenomics
-
Wilke, R.A. et al. The emerging role of electronic medical records in pharmacogenomics. Clin. Pharmacol. Ther. 89, 379-386 (2011
-
(2011)
Clin. Pharmacol. Ther
, vol.89
, pp. 379-386
-
-
Wilke, R.A.1
-
34
-
-
39849088588
-
Increased hospital mortality in patients with bedside hippus
-
Denny, J.C., Arndt, F.V., Dupont, W.D. & Neilson, E.G. Increased hospital mortality in patients with bedside hippus. Am. J. Med. 121, 239-245 (2008
-
(2008)
Am. J. Med
, vol.121
, pp. 239-245
-
-
Denny, J.C.1
Arndt, F.V.2
Dupont, W.D.3
Neilson, E.G.4
-
35
-
-
0037312921
-
Meta-Analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease
-
Lohmueller, K.E., Pearce, C.L., Pike, M., Lander, E.S. & Hirschhorn, J.N. Meta-Analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat. Genet. 33, 177-182 (2003
-
(2003)
Nat. Genet
, vol.33
, pp. 177-182
-
-
Lohmueller, K.E.1
Pearce, C.L.2
Pike, M.3
Lander, E.S.4
Hirschhorn, J.N.5
-
36
-
-
49949093313
-
Development of a large-scale de-identified DNA biobank to enable personalized medicine
-
Roden, D.M. et al. Development of a large-scale de-identified DNA biobank to enable personalized medicine. Clin. Pharmacol. Ther. 84, 362-369 (2008
-
(2008)
Clin. Pharmacol. Ther
, vol.84
, pp. 362-369
-
-
Roden, D.M.1
-
37
-
-
27644529477
-
Marshfield Clinic Personalized Medicine Research Project (PMRP): Design, methods and recruitment for a large population-based biobank
-
McCarty, C.A., Wilke, R.A., Giampietro, P.F., Wesbrook, S.D. & Caldwell, M.D. Marshfield Clinic Personalized Medicine Research Project (PMRP): Design, methods and recruitment for a large population-based biobank. Pers. Med. 2, 49-79 (2005
-
(2005)
Pers. Med
, vol.2
, pp. 49-79
-
-
McCarty, C.A.1
Wilke, R.A.2
Giampietro, P.F.3
Wesbrook, S.D.4
Caldwell, M.D.5
-
38
-
-
77953429952
-
Principles of human subjects protections applied in an opt-out, de-identified biobank
-
Pulley, J., Clayton, E., Bernard, G.R., Roden, D.M. & Masys, D.R. Principles of human subjects protections applied in an opt-out, de-identified biobank. Clin. Transl. Sci. 3, 42-48 (2010
-
(2010)
Clin. Transl. Sci
, vol.3
, pp. 42-48
-
-
Pulley, J.1
Clayton, E.2
Bernard, G.R.3
Roden, D.M.4
Masys, D.R.5
-
39
-
-
79953165427
-
Quality control procedures for genome-wide association studies
-
Turner, S. et al. Quality control procedures for genome-wide association studies. Curr. Protoc. Hum. Genet. 68, 119 (2011
-
(2011)
Curr. Protoc. Hum. Genet
, vol.68
, pp. 119
-
-
Turner, S.1
-
40
-
-
0034118493
-
Inference of population structure using multilocus genotype data
-
Pritchard, J.K., Stephens, M. & Donnelly, P. Inference of population structure using multilocus genotype data. Genetics 155, 945-959 (2000
-
(2000)
Genetics
, vol.155
, pp. 945-959
-
-
Pritchard, J.K.1
Stephens, M.2
Donnelly, P.3
-
41
-
-
33746512512
-
Principal components analysis corrects for stratification in genome-wide association studies
-
Price, A.L. et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet. 38, 904-909 (2006
-
(2006)
Nat. Genet
, vol.38
, pp. 904-909
-
-
Price, A.L.1
-
42
-
-
0032112666
-
Casemix adjustment of managed care claims data using the clinical classification for health policy research method
-
Cowen, M.E. et al. Casemix adjustment of managed care claims data using the clinical classification for health policy research method. Med. Care 36, 1108-1113 (1998
-
(1998)
Med. Care
, vol.36
, pp. 1108-1113
-
-
Cowen, M.E.1
-
43
-
-
34548292504
-
PLINK: A tool set for whole-genome association and population-based linkage analyses
-
Purcell, S. et al. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007
-
(2007)
Am. J. Hum. Genet
, vol.81
, pp. 559-575
-
-
Purcell, S.1
-
44
-
-
77950338000
-
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
-
45
-
-
57249114505
-
SNAP: A web-based tool for identification and annotation of proxy SNPs using HapMap
-
Johnson, A.D. et al. SNAP: A web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics 24, 2938-2939 (2008
-
(2008)
Bioinformatics
, vol.24
, pp. 2938-2939
-
-
Johnson, A.D.1
-
46
-
-
0036499241
-
Sample size requirements for association studies of gene-gene interaction
-
Gauderman, W.J. Sample size requirements for association studies of gene-gene interaction. Am. J. Epidemiol. 155, 478-484 (2002
-
(2002)
Am. J. Epidemiol
, vol.155
, pp. 478-484
-
-
Gauderman, W.J.1
-
47
-
-
0001677717
-
Controlling the false discovery rate: A practical and powerful approach to multiple testing
-
Benjamini, Y. & Hochberg, Y. Controlling the false discovery rate: A practical and powerful approach to multiple testing. J. R. Stat. Soc. Series B 125, 289-300 (1995
-
(1995)
J. R. Stat. Soc. Series B
, vol.125
, pp. 289-300
-
-
Benjamini, Y.1
Hochberg, Y.2
-
48
-
-
77955894071
-
METAL: Fast and efficient meta-Analysis of genomewide association scans
-
Willer, C.J., Li, Y. & Abecasis, G.R. METAL: Fast and efficient meta-Analysis of genomewide association scans. Bioinformatics 26, 2190-2191 (2010
-
(2010)
Bioinformatics
, vol.26
, pp. 2190-2191
-
-
Willer, C.J.1
Li, Y.2
Abecasis, G.R.3
|