-
1
-
-
84904804929
-
Biological insights from 108 schizophrenia-Associated genetic loci
-
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
-
-
-
2
-
-
84969760786
-
Genome-wide association study identifies 74 loci associated with educational attainment
-
Okbay, A. et al. Genome-wide association study identifies 74 loci associated with educational attainment. Nature 533, 539-542 (2016).
-
(2016)
Nature
, vol.533
, pp. 539-542
-
-
Okbay, A.1
-
3
-
-
85026709756
-
10 years of GWAS discovery: Biology, function, and translation
-
Visscher, P. M. et al. 10 years of GWAS discovery: Biology, function, and translation. Am. J. Hum. Genet. 101, 5-22 (2017).
-
(2017)
Am. J. Hum. Genet
, vol.101
, pp. 5-22
-
-
Visscher, P.M.1
-
4
-
-
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
-
5
-
-
77951439152
-
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
-
-
Nicolae, D.L.1
-
6
-
-
77952367694
-
Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations
-
Nica, A. C. et al. Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations. PLoS Genet. 6, e1000895 (2010).
-
(2010)
PLoS Genet
, vol.6
-
-
Nica, A.C.1
-
7
-
-
84865822182
-
Systematic localization of common disease-Associated variation in regulatory DNA
-
Maurano, M. T. et al. Systematic localization of common disease-Associated variation in regulatory DNA. Science 337, 1190-1195 (2012).
-
(2012)
Science
, vol.337
, pp. 1190-1195
-
-
Maurano, M.T.1
-
8
-
-
84937424402
-
Disentangling the effects of colocalizing genomic annotations to functionally prioritize non-coding variants within complex-Trait loci
-
Trynka, G. et al. Disentangling the effects of colocalizing genomic annotations to functionally prioritize non-coding variants within complex-Trait loci. Am. J. Hum. Genet. 97, 139-152 (2015).
-
(2015)
Am. J. Hum. Genet
, vol.97
, pp. 139-152
-
-
Trynka, G.1
-
9
-
-
84923362619
-
Integrative analysis of 111 reference human epigenomes
-
Roadmap Epigenomics Consortium. et al. Integrative analysis of 111 reference human epigenomes. Nature 518, 317-330 (2015).
-
(2015)
Nature
, vol.518
, pp. 317-330
-
-
-
10
-
-
84899642574
-
Heritability and genomics of gene expression in peripheral blood
-
Wright, F. A. et al. Heritability and genomics of gene expression in peripheral blood. Nat. Genet. 46, 430-437 (2014).
-
(2014)
Nat. Genet
, vol.46
, pp. 430-437
-
-
Wright, F.A.1
-
11
-
-
84925855241
-
Identification of common genetic variants controlling transcript isoform variation in human whole blood
-
Zhang, X. et al. Identification of common genetic variants controlling transcript isoform variation in human whole blood. Nat. Genet. 47, 345-352 (2015).
-
(2015)
Nat. Genet
, vol.47
, pp. 345-352
-
-
Zhang, X.1
-
12
-
-
84929001104
-
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
-
The GTEx Consortium
-
The GTEx Consortium. The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans. Science 348, 648-660 (2015).
-
(2015)
Science
, vol.348
, pp. 648-660
-
-
-
13
-
-
85002486916
-
Identification of context-dependent expression quantitative trait loci in whole blood
-
Zhernakova, D. V. et al. Identification of context-dependent expression quantitative trait loci in whole blood. Nat. Genet. 49, 139-145 (2017).
-
(2017)
Nat. Genet
, vol.49
, pp. 139-145
-
-
Zhernakova, D.V.1
-
14
-
-
85031313737
-
Genetic effects on gene expression across human tissues
-
The GTEx Consortium
-
The GTEx Consortium. Genetic effects on gene expression across human tissues. Nature 550, 204-213 (2017).
-
(2017)
Nature
, vol.550
, pp. 204-213
-
-
-
15
-
-
84887322043
-
Identification of genetic variants that affect histone modifications in human cells
-
McVicker, G. et al. Identification of genetic variants that affect histone modifications in human cells. Science 342, 747-749 (2013).
-
(2013)
Science
, vol.342
, pp. 747-749
-
-
McVicker, G.1
-
16
-
-
84940419146
-
Population variation and genetic control of modular chromatin architecture in humans
-
Waszak, S. M. et al. Population variation and genetic control of modular chromatin architecture in humans. Cell 162, 1039-1050 (2015).
-
(2015)
Cell
, vol.162
, pp. 1039-1050
-
-
Waszak, S.M.1
-
17
-
-
84940391986
-
Genetic control of chromatin states in humans involves local and distal chromosomal interactions
-
Grubert, F. et al. Genetic control of chromatin states in humans involves local and distal chromosomal interactions. Cell 162, 1051-1065 (2015).
-
(2015)
Cell
, vol.162
, pp. 1051-1065
-
-
Grubert, F.1
-
18
-
-
84995752772
-
Genetic drivers of epigenetic and transcriptional variation in human immune cells
-
Chen, L. et al. Genetic drivers of epigenetic and transcriptional variation in human immune cells. Cell 167, 1398-1414 (2016).
-
(2016)
Cell
, vol.167
, pp. 1398-1414
-
-
Chen, L.1
-
19
-
-
84887265151
-
Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture
-
Davis, L. K. et al. Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. PLoS Genet. 9, e1003864 (2013).
-
(2013)
PLoS Genet
, vol.9
-
-
Davis, L.K.1
-
20
-
-
84922282349
-
Cross-Tissue and tissue-specific eQTLs: Partitioning the heritability of a complex trait
-
Torres, J. M. et al. Cross-Tissue and tissue-specific eQTLs: Partitioning the heritability of a complex trait. Am. J. Hum. Genet. 95, 521-534 (2014).
-
(2014)
Am. J. Hum. Genet
, vol.95
, pp. 521-534
-
-
Torres, J.M.1
-
21
-
-
84903457544
-
+ effector memory T cells
-
+ effector memory T cells. PLoS Genet. 10, e1004404 (2014).
-
(2014)
PLoS Genet
, vol.10
-
-
Hu, X.1
-
22
-
-
84901631426
-
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
-
-
Giambartolomei, C.1
-
23
-
-
85003806635
-
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
-
24
-
-
84940780615
-
A gene-based association method for mapping traits using reference transcriptome data
-
Gamazon, E. R. et al. A gene-based association method for mapping traits using reference transcriptome data. Nat. Genet. 47, 1091-1098 (2015).
-
(2015)
Nat. Genet
, vol.47
, pp. 1091-1098
-
-
Gamazon, E.R.1
-
25
-
-
84959547986
-
Integrative approaches for large-scale transcriptome-wide association studies
-
Gusev, A. et al. Integrative approaches for large-scale transcriptome-wide association studies. Nat. Genet. 48, 245-252 (2016).
-
(2016)
Nat. Genet
, vol.48
, pp. 245-252
-
-
Gusev, A.1
-
26
-
-
85013638666
-
Integrating gene expression with summary association statistics to identify genes associated with 30 complex traits
-
Mancuso, N. et al. Integrating gene expression with summary association statistics to identify genes associated with 30 complex traits. Am. J. Hum. Genet. 100, 473-487 (2017).
-
(2017)
Am. J. Hum. Genet
, vol.100
, pp. 473-487
-
-
Mancuso, N.1
-
27
-
-
78650856517
-
GCTA: A tool for genome-wide complex trait analysis
-
Yang, J., Lee, S. H., Goddard, M. E. & Visscher, P. M. GCTA: A tool for genome-wide complex trait analysis. Am. J. Hum. Genet. 88, 76-82 (2011).
-
(2011)
Am. J. Hum. Genet
, vol.88
, pp. 76-82
-
-
Yang, J.1
Lee, S.H.2
Goddard, M.E.3
Visscher, P.M.4
-
28
-
-
84862777863
-
Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs
-
Lee, S. H. et al. Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs. Nat. Genet. 44, 247-250 (2012).
-
(2012)
Nat. Genet
, vol.44
, pp. 247-250
-
-
Lee, S.H.1
-
29
-
-
84922273141
-
Partitioning heritability of regulatory and cell-Type-specific variants across 11 common diseases
-
Gusev, A. et al. Partitioning heritability of regulatory and cell-Type-specific variants across 11 common diseases. Am. J. Hum. Genet. 95, 535-552 (2014).
-
(2014)
Am. J. Hum. Genet
, vol.95
, pp. 535-552
-
-
Gusev, A.1
-
30
-
-
85000643907
-
Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis
-
Loh, P.-R. et al. Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis. Nat. Genet. 47, 1385-1392 (2015).
-
(2015)
Nat. Genet
, vol.47
, pp. 1385-1392
-
-
Loh, P.R.1
-
31
-
-
85021765664
-
Reevaluation of SNP heritability in complex human traits
-
Speed, D., Cai, N., Johnson, M. R., Nejentsev, S. & Balding, D. J. Reevaluation of SNP heritability in complex human traits. Nat. Genet. 49, 986-992 (2017).
-
(2017)
Nat. Genet
, vol.49
, pp. 986-992
-
-
Speed, D.1
Cai, N.2
Johnson, M.R.3
Nejentsev, S.4
Balding, D.J.5
-
32
-
-
85000443086
-
Partitioning heritability by functional annotation using genome-wide association summary statistics
-
Finucane, H. K. et al. Partitioning heritability by functional annotation using genome-wide association summary statistics. Nat. Genet. 47, 1228-1235 (2015).
-
(2015)
Nat. Genet
, vol.47
, pp. 1228-1235
-
-
Finucane, H.K.1
-
33
-
-
85030183053
-
Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection
-
Gazal, S. et al. Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection. Nat. Genet. 49, 1421-1427 (2017).
-
(2017)
Nat. Genet
, vol.49
, pp. 1421-1427
-
-
Gazal, S.1
-
34
-
-
84994748491
-
Dissecting the genetics of complex traits using summary association statistics
-
Pasaniuc, B. & Price, A. L. Dissecting the genetics of complex traits using summary association statistics. Nat. Rev. Genet. 18, 117-127 (2017).
-
(2017)
Nat. Rev. Genet
, vol.18
, pp. 117-127
-
-
Pasaniuc, B.1
Price, A.L.2
-
35
-
-
84908042860
-
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
-
36
-
-
85016031967
-
Functional architectures of local and distal regulation of gene expression in multiple human tissues
-
Liu, X. et al. Functional architectures of local and distal regulation of gene expression in multiple human tissues. Am. J. Hum. Genet. 100, 605-616 (2017).
-
(2017)
Am. J. Hum. Genet
, vol.100
, pp. 605-616
-
-
Liu, X.1
-
37
-
-
84982253941
-
Analysis of protein-coding genetic variation in 60,706 humans
-
Lek, M. et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, 285-291 (2016).
-
(2016)
Nature
, vol.536
, pp. 285-291
-
-
Lek, M.1
-
39
-
-
85017008531
-
Estimating the selective effects of heterozygous protein-Truncating variants from human exome data
-
Cassa, C. A. et al. Estimating the selective effects of heterozygous protein-Truncating variants from human exome data. Nat. Genet. 49, 806-810 (2017).
-
(2017)
Nat. Genet
, vol.49
, pp. 806-810
-
-
Cassa, C.A.1
-
40
-
-
84922394049
-
A framework for the interpretation of de novo mutation in human disease
-
Samocha, K. E. et al. A framework for the interpretation of de novo mutation in human disease. Nat. Genet. 46, 944-950 (2014).
-
(2014)
Nat. Genet
, vol.46
, pp. 944-950
-
-
Samocha, K.E.1
-
41
-
-
84947471999
-
Identification and characterization of essential genes in the human genome
-
Wang, T. et al. Identification and characterization of essential genes in the human genome. Science 350, 1096-1101 (2015).
-
(2015)
Science
, vol.350
, pp. 1096-1101
-
-
Wang, T.1
-
42
-
-
85018772148
-
Widespread allelic heterogeneity in complex traits
-
Hormozdiari, F. et al. Widespread allelic heterogeneity in complex traits. Am. J. Hum. Genet. 100, 789-802 (2017).
-
(2017)
Am. J. Hum. Genet
, vol.100
, pp. 789-802
-
-
Hormozdiari, F.1
-
43
-
-
55449112450
-
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
-
-
Veyrieras, J.B.1
-
44
-
-
84995792545
-
Lineage-specific genome architecture links enhancers and non-coding disease variants to target gene promoters
-
Javierre, B. M. et al. Lineage-specific genome architecture links enhancers and non-coding disease variants to target gene promoters. Cell 167, 1369-1384 (2016).
-
(2016)
Cell
, vol.167
, pp. 1369-1384
-
-
Javierre, B.M.1
-
45
-
-
85032453347
-
Enhancer connectome in primary human cells identifies target genes of disease-Associated DNA elements
-
Mumbach, M. R. et al. Enhancer connectome in primary human cells identifies target genes of disease-Associated DNA elements. Nat. Genet. 49, 1602-1612 (2017).
-
(2017)
Nat. Genet
, vol.49
, pp. 1602-1612
-
-
Mumbach, M.R.1
-
46
-
-
84968732934
-
RNA splicing is a primary link between genetic variation and disease
-
Li, Y. I. et al. RNA splicing is a primary link between genetic variation and disease. Science 352, 600-604 (2016).
-
(2016)
Science
, vol.352
, pp. 600-604
-
-
Li, Y.I.1
-
47
-
-
85031302505
-
The impact of rare variation on gene expression across tissues
-
Li, X. et al. The impact of rare variation on gene expression across tissues. Nature 550, 239-243 (2017).
-
(2017)
Nature
, vol.550
, pp. 239-243
-
-
Li, X.1
-
48
-
-
84879653976
-
Effectively identifying eQTLs from multiple tissues by combining mixed model and meta-Analytic approaches
-
Sul, J. H., Han, B., Ye, C., Choi, T. & Eskin, E. Effectively identifying eQTLs from multiple tissues by combining mixed model and meta-Analytic approaches. PLoS Genet. 9, e1003491 (2013).
-
(2013)
PLoS Genet
, vol.9
-
-
Sul, J.H.1
Han, B.2
Ye, C.3
Choi, T.4
Eskin, E.5
-
49
-
-
84878476783
-
A statistical framework for joint eQTL analysis in multiple tissues
-
Flutre, T., Wen, X., Pritchard, J. & Stephens, M. A statistical framework for joint eQTL analysis in multiple tissues. PLoS Genet. 9, e1003486 (2013).
-
(2013)
PLoS Genet
, vol.9
-
-
Flutre, T.1
Wen, X.2
Pritchard, J.3
Stephens, M.4
-
50
-
-
85045328177
-
Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types
-
Finucane, H. K. et al. Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. Nat. Genet. 50, 621-629 (2018).
-
(2018)
Nat. Genet
, vol.50
, pp. 621-629
-
-
Finucane, H.K.1
-
51
-
-
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
-
52
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
The 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010).
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
-
53
-
-
77956331627
-
Integrating common and rare genetic variation in diverse human populations
-
The International HapMap 3 Consortium. Integrating common and rare genetic variation in diverse human populations. Nature 467, 52-58 (2010).
-
(2010)
Nature
, vol.467
, pp. 52-58
-
-
-
54
-
-
85048347065
-
Mixed model association for Biobank-scale data sets
-
Loh, P.-R. et al. Mixed model association for Biobank-scale data sets. Nat. Genet. 50, 621-629 (2018).
-
(2018)
Nat. Genet
, vol.50
, pp. 621-629
-
-
Loh, P.R.1
-
55
-
-
85000692305
-
An atlas of genetic correlations across human diseases and traits
-
Bulik-Sullivan, B. et al. An atlas of genetic correlations across human diseases and traits. Nat. Genet. 47, 1236-1241 (2015).
-
(2015)
Nat. Genet
, vol.47
, pp. 1236-1241
-
-
Bulik-Sullivan, B.1
-
57
-
-
85032994362
-
-
bioRxiv
-
Park, Y., Sarkar, A. K., Bhutani, K. & Kellis, M. Multi-Tissue polygenic models for transcriptome-wide association studies. bioRxiv (2017).
-
(2017)
Multi-Tissue Polygenic Models for Transcriptome-wide Association Studies
-
-
Park, Y.1
Sarkar, A.K.2
Bhutani, K.3
Kellis, M.4
-
58
-
-
84868336049
-
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease
-
Jostins, L. et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 491, 119-124 (2012).
-
(2012)
Nature
, vol.491
, pp. 119-124
-
-
Jostins, L.1
-
59
-
-
84894288992
-
Genetics of rheumatoid arthritis contributes to biology and drug discovery
-
Okada, Y. et al. Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature 506, 376-381 (2014).
-
(2014)
Nature
, vol.506
, pp. 376-381
-
-
Okada, Y.1
-
60
-
-
84949097483
-
Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus
-
Bentham, J. et al. Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. Nat. Genet. 47, 1457-1464 (2015).
-
(2015)
Nat. Genet
, vol.47
, pp. 1457-1464
-
-
Bentham, J.1
-
61
-
-
77950243833
-
Multiple common variants for celiac disease influencing immune gene expression
-
Dubois, P. C. A. et al. Multiple common variants for celiac disease influencing immune gene expression. Nat. Genet. 42, 295-302 (2010).
-
(2010)
Nat. Genet
, vol.42
, pp. 295-302
-
-
Dubois, P.C.A.1
-
62
-
-
85018441896
-
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
-
Day, F. R. et al. Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. Nat. Genet. 49, 834-841 (2017).
-
(2017)
Nat. Genet
, vol.49
, pp. 834-841
-
-
Day, F.R.1
-
63
-
-
78049337953
-
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
-
Speliotes, E. K. et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat. Genet. 42, 937-948 (2010).
-
(2010)
Nat. Genet
, vol.42
, pp. 937-948
-
-
Speliotes, E.K.1
-
64
-
-
80053385384
-
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4
-
Psychiatric GWAS Consortium Bipolar Disorder Working Group
-
Psychiatric GWAS Consortium Bipolar Disorder Working Group. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nat. Genet. 43, 977-983 (2011).
-
(2011)
Nat. Genet
, vol.43
, pp. 977-983
-
-
-
65
-
-
77951711343
-
Genome-wide meta-Analyses identify multiple loci associated with smoking behavior
-
The Tobacco and Genetics Consortium. Genome-wide meta-Analyses identify multiple loci associated with smoking behavior. Nat. Genet. 42, 441-447 (2010).
-
(2010)
Nat. Genet
, vol.42
, pp. 441-447
-
-
-
66
-
-
84879271608
-
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment
-
Rietveld, C. A. et al. GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science 340, 1467-1471 (2013).
-
(2013)
Science
, vol.340
, pp. 1467-1471
-
-
Rietveld, C.A.1
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