Partitioning heritability by functional annotation using genome-wide association summary statistics
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Abstract
Recent work has demonstrated that some functional categories of the genome contribute disproportionately to the heritability of complex diseases. Here we analyze a broad set of functional elements, including cell type-specific elements, to estimate their polygenic contributions to heritability in genome-wide association studies (GWAS) of 17 complex diseases and traits with an average sample size of 73,599. To enable this analysis, we introduce a new method, stratified LD score regression, for partitioning heritability from GWAS summary statistics while accounting for linked markers. This new method is computationally tractable at very large sample sizes and leverages genome-wide information. Our findings include a large enrichment of heritability in conserved regions across many traits, a very large immunological disease-specific enrichment of heritability in FANTOM5 enhancers and many cell type-specific enrichments, including significant enrichment of central nervous system cell types in the heritability of body mass index, age at menarche, educational attainment and smoking behavior.
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For reliability of S-LDSC heritability estimates, two thresholds were applied to select GWAS based on recommendations from Finucane et al. and the Neale lab.
“For reliability of S-LDSC heritability estimates, we apply two thresholds to select GWAS based on recommendations from Finucane et al.38 and the Neale lab38,55,79.”
From Quantifying the contribution of Neanderthal introgression to the heritability of complex traits (2021) · cites this paper as Finucane et al.38
In Results, 'Simulation results: power and lack of bias' (page unavailable), Finucane et al. say they selected traits with a total SNP-heritability z-score above 7 because that score indicated power. 'Analysis of 17 traits using the full baseline model' likewise states a cutoff of at least 7. Our copy supports this GWAS-selection criterion, but does not provide a second threshold or attribute one to the Neale lab. (LLM, conf=0.84)
Experimental — accuracy not yet measuredTraits were included only if they had high-confidence SNP heritability estimates, defined as effective sample size >40,000, standard error <6 times expected based on GWAS sample size, sex bias <3:1, and no nonlinear ordinal coding of numeric values.
“High confidence estimates of SNP heritability: traits with an effective sample size of greater than 40,000, a standard error of less than 6 times expected based on the GWAS sample size, sex bias less than 3:1, no nonlinear ordinal coding of numeric values”
From Quantifying the contribution of Neanderthal introgression to the heritability of complex traits (2021) · cites this paper as Finucane et al.38
The Results sections on the 17-trait analysis and simulation power say the authors selected traits with sufficient sample size, SNP heritability, and polygenicity, specifically requiring a total SNP-heritability z-score of at least 7. They do not give the claimed >40,000 effective-sample-size threshold, standard-error limit, sex-ratio limit, or ordinal-coding rule. (LLM, conf=0.86)
Experimental — accuracy not yet measuredTraits were included only if they were significantly heritable, defined as heritability estimates with P < 1.28 × 10−12 (z > 7).
“Significantly heritable traits: phenotypes that have heritability estimates with P < 1.28 × 10−12 (z > 7)”
From Quantifying the contribution of Neanderthal introgression to the heritability of complex traits (2021) · cites this paper as Finucane et al.38
Partitioned heritability analysis by functional annotation with 53 categories did not identify strong enrichment in any category after correction for multiple testing.
“Partitioned heritability analysis by functional annotation with 53 categories14 did not identify strong enrichment in any category after correction for multiple testing (Supplementary Table 6), likely due to insufficient power.”
From Locus for severity implicates CNS resilience in progression of multiple sclerosis (2023) · cites this paper as [14]
Partitioned heritability and LDSC-SEG analyses showed similar results for both EAS and EUR populations.
“our partitioned heritability and LDSC-SEG analyses24,25 showed similar results for both populations.”
From Shared genetic architectures of educational attainment in East Asian and European populations (2024) · cites this paper as [24]
Loci associated with human osteocyte transcriptome signature gene orthologs contribute to the heritability of OA at any site (P = 1.6 × 10−7), at the knee (P = 1.9 × 10−6), hip (P = 4.5 × 10−3) and hip and/or knee (P = 3.2 × 10−6).
“LDSC-SEG analysis60,61 showed that loci associated with human osteocyte transcriptome signature gene orthologs contribute to the heritability of OA at any site (P = 1.6 × 10−7), at the knee (P = 1.9 × 10−6), hip (P = 4.5 × 10−3) and hip and/or knee (P = 3.2 × 10−6).”
From Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease (2021) · cites this paper as [60]
MAGMA does not account for tissue-specific regulatory relationships, whereas disease risk SNPs are enriched in regulatory elements of the disease-relevant tissue.
“Second, MAGMA does not take into account tissue-specific regulatory relationships, whereas disease risk SNPs are enriched in regulatory elements of the disease-relevant tissue5,6.”
From A computational tool (H-MAGMA) for improved prediction of brain-disorder risk genes by incorporating brain chromatin interaction profiles (2020) · cites this paper as [6]
Psychiatric disorders showed strong heritability enrichment in brain tissues, while degenerative disorders lacked brain-specific enrichment.
“Consistent with the previous findings6, psychiatric disorders showed strong enrichment in brain tissues, while degenerative disorders lacked brain-specific enrichment (Extended Data Fig. 2).”
From A computational tool (H-MAGMA) for improved prediction of brain-disorder risk genes by incorporating brain chromatin interaction profiles (2020) · cites this paper as [6]
Transcript-level differential expression showed the greatest enrichment for SCZ SNP-heritability by stratified LD score regression.
“Transcript-level differential expression also showed the greatest enrichment for SCZ SNP-heritability, as measured by stratified LD score regression (21, 39) (Fig 3B).”
From Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder (2018) · cites this paper as [39]
Cell/tissue enrichment was observed across all five phenotypes within core histone marks from multiple central nervous system tissues.
“Cell/tissue enrichment22 was observed across all five phenotypes within core histone marks from multiple central nervous system (CNS) tissues (Supplementary Figures 13–15, Supplementary Tables 15–16).”
From Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use (2019) · cites this paper as [22]
AD SNP-based heritability is highly enriched in NeuN− enhancers (NeuN+ p = 0.205, NeuN− p = 8.41 × 10−9).
“AD SNP-based heritability was highly enriched in NeuN− enhancers (NeuN+ p = 0.205, NeuN− p = 8.41 × 10−9), suggesting that NeuN− gene regulatory relationships would be the most appropriate for refining biological insight from AD GWAS (Fig. 4a).”
From Neuronal and glial 3D chromatin architecture informs the cellular etiology of brain disorders (2021) · cites this paper as [45]
LD score regression confirmed a stronger enrichment of autism spectrum disorder-associated heritability in class 2 loop anchors than class 3, whereas schizophrenia heritability displayed the opposite trend.
“Our LD score regression analysis confirmed a stronger enrichment of ASD-associated heritability in class 2 loop anchors than that for class 3, whereas heritability for schizophrenia displayed the opposite trend”
From Three-dimensional genome restructuring across timescales of activity-induced neuronal gene expression (2020) · cites this paper as [43]
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Cites
An integrated encyclopedia of DNA elements in the human genome
The ENCODE Project Consortium (2012) · Nature · doi:10.1038/nature11247 · Cited by 18,072 · see citing works
Self-citationThe Human Genome Browser at UCSC
Kent, W. J., Sugnet, C. W., Furey, T. S., Roskin, K. M., Pringle, T. H., Zahler, A. M., & Haussler, A. D. (2002) · Genome Research · doi:10.1101/gr.229102 · Cited by 10,400 · see citing works
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442 · see citing works
Self-citationGCTA: a tool for genome-wide complex trait analysis
Yang, J., Lee, S. H., Goddard, M. E., & Visscher, P. M. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.11.011 · Cited by 8,279 · see citing works
An integrated map of genetic variation from 1,092 human genomes
The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711 · see citing works
Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities
Faith, M. S., Carnell, S., & Kral, T. V. E. (2013) · Human Heredity · doi:10.1159/000353879 · Cited by 7,628 · see citing works
Biological insights from 108 schizophrenia-associated genetic loci
Schizophrenia Working Group of the Psychiatric Genomics Consortium (2014) · Nature · doi:10.1038/nature13595 · Cited by 7,577 · see citing works
Integrative analysis of 111 reference human epigenomes
Roadmap Epigenomics Consortium, Kundaje, A., Meuleman, W., Ernst, J., Bilenky, M., Yen, A., Heravi-Moussavi, A., Kheradpour, P., Zhang, Z., Wang, J., et al. (2015) · Nature · doi:10.1038/nature14248 · Cited by 6,368 · see citing works
Self-citationLD Score regression distinguishes confounding from polygenicity in genome-wide association studies
Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bulik-Sullivan, B. K., Loh, P.-R., Finucane, H. K., Ripke, S., Yang, J., Patterson, N., Daly, M. J., Price, A. L., & Neale, B. M. (2015) · Nature Genetics · doi:10.1038/ng.3211 · Cited by 5,559 · see citing works
Self-citationHost–microbe interactions have shaped the genetic architecture of inflammatory bowel disease
The International IBD Genetics Consortium (IIBDGC), Jostins, L., Ripke, S., Weersma, R. K., Duerr, R. H., McGovern, D. P., Hui, K. Y., Lee, J. C., Philip Schumm, L., Sharma, Y., et al. (2012) · Nature · doi:10.1038/nature11582 · Cited by 4,722 · see citing works
Self-citationCommon SNPs explain a large proportion of the heritability for human height
Yang, J., Benyamin, B., McEvoy, B. P., Gordon, S., Henders, A. K., Nyholt, D. R., Madden, P. A., Heath, A. C., Martin, N. G., Montgomery, G. W., et al. (2010) · Nature Genetics · doi:10.1038/ng.608 · Cited by 4,446 · see citing works
An atlas of genetic correlations across human diseases and traits
ReproGen Consortium, Bulik-Sullivan, B., Psychiatric Genomics Consortium, Genetic Consortium for Anorexia Nervosa of the Wellcome Trust Case Control Consortium 3, Finucane, H. K., Anttila, V., Gusev, A., Day, F. R., Loh, P.-R., Duncan, L., et al. (2015) · Nature Genetics · doi:10.1038/ng.3406 · Cited by 4,255 · see citing works
Self-citationSystematic Localization of Common Disease-Associated Variation in Regulatory DNA
Maurano, M. T., Humbert, R., Rynes, E., Thurman, R. E., Haugen, E., Wang, H., Reynolds, A. P., Sandstrom, R., Qu, H., Brody, J., et al. (2012) · Science · doi:10.1126/science.1222794 · Cited by 3,716 · see citing works
Super-enhancers in the control of cell identity and disease
Hnisz, D., Abraham, B. J., Lee, T. I., Lau, A., Saint-André, V., Sigova, A. A., Hoke, H. A., & Young, R. A. (2013) · Cell · doi:10.1016/j.cell.2013.09.053 · Cited by 3,662 · see citing works
Biological, clinical and population relevance of 95 loci for blood lipids
Teslovich, T. M., Musunuru, K., Smith, A. V., Edmondson, A. C., Stylianou, I. M., Koseki, M., Pirruccello, J. P., Ripatti, S., Chasman, D. I., Willer, C. J., et al. (2010) · Nature · doi:10.1038/nature09270 · Cited by 3,487 · see citing works
Integrating common and rare genetic variation in diverse human populations
The International HapMap 3 Consortium (2010) · Nature · doi:10.1038/nature09298 · Cited by 3,026 · see citing works
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
MAGIC, Speliotes, E. K., on behalf of Procardis Consortium, Willer, C. J., Berndt, S. I., Monda, K. L., Thorleifsson, G., Jackson, A. U., Allen, H. L., Lindgren, C. M., et al. (2010) · Nature Genetics · doi:10.1038/ng.686 · Cited by 2,912 · see citing works
Self-citationAn atlas of active enhancers across human cell types and tissues
The FANTOM Consortium, Andersson, R., Gebhard, C., Miguel-Escalada, I., Hoof, I., Bornholdt, J., Boyd, M., Chen, Y., Zhao, X., Schmidl, C., et al. (2014) · Nature · doi:10.1038/nature12787 · Cited by 2,550 · see citing works
Genetics of rheumatoid arthritis contributes to biology and drug discovery
the RACI consortium, Okada, Y., the GARNET consortium, Wu, D., Trynka, G., Raj, T., Terao, C., Ikari, K., Kochi, Y., Ohmura, K., et al. (2014) · Nature · doi:10.1038/nature12873 · Cited by 2,310 · see citing works
Self-citationGenetic and epigenetic fine mapping of causal autoimmune disease variants
Farh, K. K.-H., Marson, A., Zhu, J., Kleinewietfeld, M., Housley, W. J., Beik, S., Shoresh, N., Whitton, H., Ryan, R. J. H., Shishkin, A. A., et al. (2015) · Nature · doi:10.1038/nature13835 · Cited by 1,956 · see citing works
Self-citationHundreds of variants clustered in genomic loci and biological pathways affect human height
Lango Allen, H., Estrada, K., Lettre, G., Berndt, S. I., Weedon, M. N., Rivadeneira, F., Willer, C. J., Jackson, A. U., Vedantam, S., Raychaudhuri, S., et al. (2010) · Nature · doi:10.1038/nature09410 · Cited by 1,945 · see citing works
Self-citationthe DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Morris, A. P., Voight, B. F., Teslovich, T. M., Ferreira, T., Segrè, A. V., Steinthorsdottir, V., Strawbridge, R. J., Khan, H., Grallert, H., et al. (2012) · Nature Genetics · doi:10.1038/ng.2383 · Cited by 1,912 · see citing works
Self-citationThe NIH Roadmap Epigenomics Mapping Consortium
Bernstein, B. E., Stamatoyannopoulos, J. A., Costello, J. F., Ren, B., Milosavljevic, A., Meissner, A., Kellis, M., Marra, M. A., Beaudet, A. L., Ecker, J. R., et al. (2010) · Nature Biotechnology · doi:10.1038/nbt1010-1045 · Cited by 1,892 · see citing works
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
Cardiogenics, Schunkert, H., the CARDIoGRAM Consortium, König, I. R., Kathiresan, S., Reilly, M. P., Assimes, T. L., Holm, H., Preuss, M., Stewart, A. F. R., et al. (2011) · Nature Genetics · doi:10.1038/ng.784 · Cited by 1,866 · see citing works
Self-citationPsychiatric GWAS Consortium Bipolar Disorder Working Group, Sklar, P., Ripke, S., Scott, L. J., Andreassen, O. A., Cichon, S., Craddock, N., Edenberg, H. J., Nurnberger, J. I., Rietschel, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.943 · Cited by 1,344 · see citing works
Self-citationA high-resolution map of human evolutionary constraint using 29 mammals
Broad Institute Sequencing Platform and Whole Genome Assembly Team, Lindblad-Toh, K., Baylor College of Medicine Human Genome Sequencing Center Sequencing Team, Genome Institute at Washington University, Garber, M., Zuk, O., Lin, M. F., Parker, B. J., Washietl, S., Kheradpour, P., et al. (2011) · Nature · doi:10.1038/nature10530 · Cited by 1,108 · see citing works
Genome-wide meta-analyses identify multiple loci associated with smoking behavior
The Tobacco and Genetics Consortium (2010) · Nature Genetics · doi:10.1038/ng.571 · Cited by 1,098 · see citing works
Self-citationGWAS of 126,559 Individuals Identifies Genetic Variants Associated with Educational Attainment
Rietveld, C. A., Medland, S. E., Derringer, J., Yang, J., Esko, T., Martin, N. W., Westra, H.-J., Shakhbazov, K., Abdellaoui, A., Agrawal, A., et al. (2013) · Science · doi:10.1126/science.1235488 · Cited by 827 · see citing works
Manning, A. K., Hivert, M., Scott, R. A., Grimsby, J., Bouatia‐Naji, N., Chen, H., Rybin, D. V., Liu, C.-T., Bielak, L. F., Prokopenko, I., et al. (2012) · Nature Genetics · doi:10.1038/ng.2274 · Cited by 806 · see citing works
Self-citationAssociation analyses of 249,796 individuals reveal 18 new loci associated with body mass index
Speliotes, E. K., Willer, C. J., Berndt, S. I., Monda, K. L., Þorleifsson, G., Jackson, A., Allen, H. L., Lindgren, C. M., Luan, J., Mägi, R., et al. (2010) · Carolina Digital Repository (University of North Carolina at Chapel Hill) · doi:10.17615/d3bn-7g86 · Cited by 767 · see citing works
Self-citationPott, S., & Lieb, J. D. (2014) · Nature Genetics · doi:10.1038/ng.3167 · Cited by 745 · see citing works
Parker, S. C. J., Stitzel, M. L., Taylor, D. L., Orozco, J. M., Erdos, M. R., Akiyama, J. A., van Bueren, K. L., Chines, P. S., Narisu, N., Program, N. C. S., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1317023110 · Cited by 665 · see citing works
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
Study, A. O. C., Perry, J. R. B., The GENICA Network, kConFab, Study, T. L. C., The InterAct Consortium, Early Growth Genetics (EGG) Consortium, Day, F., Elks, C. E., Sulem, P., et al. (2014) · Nature · doi:10.1038/nature13545 · Cited by 604 · see citing works
Self-citationChromatin marks identify critical cell types for fine mapping complex trait variants
Trynka, G., Sandor, C., Han, B., Xu, H., Stranger, B. E., Liu, X. S., & Raychaudhuri, S. (2013) · Nature Genetics · doi:10.1038/ng.2504 · Cited by 580 · see citing works
Self-citationEstimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs
The Schizophrenia Psychiatric Genome-Wide Association Study Consortium (PGC-SCZ), Lee, S. H., The International Schizophrenia Consortium (ISC), The Molecular Genetics of Schizophrenia Collaboration (MGS), DeCandia, T. R., Ripke, S., Yang, J., Sullivan, P. F., Goddard, M. E., Keller, M. C., et al. (2012) · Nature Genetics · doi:10.1038/ng.1108 · Cited by 579 · see citing works
Self-citationGenomic inflation factors under polygenic inheritance
Yang, J., Weedon, M. N., Purcell, S., Lettre, G., Estrada, K., Willer, C. J., Smith, A. V., Ingelsson, E., O’Connell, J. R., Mangino, M., et al. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.39 · Cited by 560 · see citing works
Self-citationPartitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases
Gusev, A., Lee, S. H., Trynka, G., Finucane, H., Vilhjálmsson, B. J., Xu, H., Zang, C., Ripke, S., Bulik-Sullivan, B., Stahl, E., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.10.004 · Cited by 544 · see citing works
Self-citationIntegrative annotation of chromatin elements from ENCODE data
Hoffman, M. M., Ernst, J., Wilder, S. P., Kundaje, A. B., Harris, R. S., Libbrecht, M., Giardine, B. M., Ellenbogen, P. M., Bilmes, J. A., Birney, E., et al. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks1284 · Cited by 521 · see citing works
Joint Analysis of Functional Genomic Data and Genome-wide Association Studies of 18 Human Traits
Pickrell, J. K. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.03.004 · Cited by 520 · see citing works
Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants
Pasquali, L., Gaulton, K. J., Rodríguez‐Seguí, S. A., Mularoni, L., Miguel-Escalada, I., Akerman, İ., Tena, J. J., Morán, I., Gómez-Marín, C., van de Bunt, M., et al. (2014) · Nature Genetics · doi:10.1038/ng.2870 · Cited by 502 · see citing works
Integrating Functional Data to Prioritize Causal Variants in Statistical Fine-Mapping Studies
Kichaev, G., Yang, W.-Y., Lindström, S., Hormozdiari, F., Eskin, E., Price, A. L., Kraft, P. L., & Paşaniuc, B. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004722 · Cited by 476 · see citing works
Self-citationBayesian inference analyses of the polygenic architecture of rheumatoid arthritis
Diabetes Genetics Replication and Meta-analysis Consortium, Stahl, E. A., Myocardial Infarction Genetics Consortium, Wegmann, D., Trynka, G., Gutierrez-Achury, J., Do, R., Voight, B. F., Kraft, P., Chen, R., et al. (2012) · Nature Genetics · doi:10.1038/ng.2232 · Cited by 388 · see citing works
Self-citationDoushantuo embryos preserved inside diapause egg cysts
Yin, L., Zhu, M., Knoll, A. H., Yuan, X., Zhang, J., & Hu, J. (2007) · Nature · doi:10.1038/nature05682 · Cited by 347 · see citing works
Davis, L. K., Yu, D., Keenan, C. L., Gamazon, E. R., Konkashbaev, A. I., Derks, E. M., Neale, B. M., Yang, J., Lee, S., Evans, P. D., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003864 · Cited by 331 · see citing works
Self-citationA genome-wide association study of anorexia nervosa
Perica, V. B., Franklin, C. S., Floyd, J. A. B., Thornton, L. M., Huckins, L. M., Southam, L., Rayner, N. W., Tachmazidou, I., Klump, K. L., Treasure, J. L., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2013.187 · Cited by 314 · see citing works
Wang, W., Shao, S., Jiao, Z., Guo, M., Xu, H., & Wang, S. (2011) · Rheumatology International · doi:10.1007/s00296-010-1710-0 · Cited by 235 · see citing works
Self-citationEvidence of Abundant Purifying Selection in Humans for Recently Acquired Regulatory Functions
Ward, L. D., & Kellis, M. (2012) · Science · doi:10.1126/science.1225057 · Cited by 209 · see citing works
Meta-analysis of gene-level tests for rare variant association
Liu, D. J., Peloso, G. M., Zhan, X., Holmen, O. L., Zawistowski, M., Feng, S., Nikpay, M., Auer, P. L., Goel, A., Zhang, H., et al. (2013) · Nature Genetics · doi:10.1038/ng.2852 · Cited by 189 · see citing works
Analysis of the matrix metalloproteinase family reveals that MMP8 is often mutated in melanoma
Palavalli, L. H., Prickett, T. D., Wunderlich, J. R., Wei, X., Burrell, A. S., Porter-Gill, P. A., Davis, S. R., Wang, C., Cronin, J. C., Agrawal, N., et al. (2009) · Nature Genetics · doi:10.1038/ng.340 · Cited by 161 · see citing works
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Perry, J. R. B., Day, F. R., Elks, C. E., Sulem, P., Thompson, D. J., Ferreira, T. C., He, C., Chasman, D. I., Esko, T., Þorleifsson, G., et al. (2014) · White Rose Research Online (University of Leeds, The University of Sheffield, University of York) · doi:10.17863/cam.17982 · Cited by 158 · see citing works
Self-citationPathophysiology of Heart Disease: A Collaborative Project of Medical Students and Faculty
Lilly, L. S. (2002) · Cited by 147 · see citing works
What does our genome encode?Preprint
Stamatoyannopoulos, J. A. (2012) · Genome Research · doi:10.1101/gr.146506.112 · Cited by 116 · see citing works
Trynka, G., Westra, H.-J., Slowikowski, K., Hu, X., Xu, H., Stranger, B. E., Klein, R. J., Han, B., & Raychaudhuri, S. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.05.016 · Cited by 114 · see citing works
Self-citationA genome-wide association study of anorexia nervosa
Perica, V. B., Franklin, C. S., Floyd, J. A. B., Thornton, L. M., Huckins, L. M., Southam, L., Rayner, N. W., Tachmazidou, I., Klump, K. L., Treasure, J. L., et al. (2014) · Utrecht University Repository (Utrecht University) · Cited by 74 · see citing works
Defining the neural basis of appetite and obesity: from genes to behaviour
Farooqi, I. S. (2014) · Clinical Medicine · doi:10.7861/clinmedicine.14-3-286 · Cited by 42 · see citing works
Trynka, G., Westra, H.-J., Slowikowski, K., et al. (2014) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/009258 · Cited by 8 · see citing works
Self-citation
Flagged first, then by citations
Research works printed but not linked: 1
- [40]Kettyle WM Arky RA Endocrine pathophysiology Lippincott Williams & Wilkins 1998
Cited by
Sorted by citations
The mutational constraint spectrum quantified from variation in 141,456 humans
Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2020) · Nature · doi:10.1038/s41586-020-2308-7 · Cited by 9,434 · see citing works
Self-citationThe GTEx Consortium atlas of genetic regulatory effects across human tissues
The GTEx Consortium, Aguet, F., Anand, S., Ardlie, K. G., Gabriel, S., Getz, G. A., Graubert, A., Hadley, K., Handsaker, R. E., Huang, K. H., et al. (2020) · Science · doi:10.1126/science.aaz1776 · Cited by 5,547 · see citing works
Self-citationAn atlas of genetic correlations across human diseases and traits
ReproGen Consortium, Bulik-Sullivan, B., Psychiatric Genomics Consortium, Genetic Consortium for Anorexia Nervosa of the Wellcome Trust Case Control Consortium 3, Finucane, H. K., Anttila, V., Gusev, A., Day, F. R., Loh, P.-R., Duncan, L., et al. (2015) · Nature Genetics · doi:10.1038/ng.3406 · Cited by 4,255 · see citing works
Self-citation10 Years of GWAS Discovery: Biology, Function, and Translation
Visscher, P. M., Wray, N. R., Zhang, Q., Sklar, P., McCarthy, M. I., Brown, M. A., & Yang, J. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.06.005 · Cited by 3,719 · see citing works
Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets
Zhu, Z., Zhang, F., Hu, H., Bakshi, A., Robinson, M. R., Powell, J. E., Montgomery, G. W., Goddard, M. E., Wray, N. R., Visscher, P. M., et al. (2016) · Nature Genetics · doi:10.1038/ng.3538 · Cited by 3,352 · see citing works
eQTLGen, Wray, N. R., 23andMe, the Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Ripke, S., Mattheisen, M., Trzaskowski, M., Byrne, E. M., Abdellaoui, A., Adams, M. J., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0090-3 · Cited by 3,005 · see citing works
Self-citationAn Expanded View of Complex Traits: From Polygenic to Omnigenic
Boyle, E. A., Li, Y. I., & Pritchard, J. K. (2017) · Cell · doi:10.1016/j.cell.2017.05.038 · Cited by 2,851 · see citing works
Integrative approaches for large-scale transcriptome-wide association studies
Gusev, A., Ko, A., Shi, H., Bhatia, G., Chung, W., Penninx, B. W. J. H., Jansen, R., de Geus, E. J. C., Boomsma, D. I., Wright, F. A., et al. (2016) · Nature Genetics · doi:10.1038/ng.3506 · Cited by 2,479 · see citing works
Self-citationIdentification of common genetic risk variants for autism spectrum disorder
Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, Grove, J., BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, 23andMe Research Team, Ripke, S., Als, T. D., Mattheisen, M., Walters, R. K., Won, H., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0344-8 · Cited by 2,421 · see citing works
Self-citationJansen, I. E., Savage, J. E., Watanabe, K., Bryois, J., Williams, D. M., Steinberg, S., Sealock, J., Karlsson, I. K., Hägg, S., Athanasiu, L., et al. (2019) · Nature Genetics · doi:10.1038/s41588-018-0311-9 · Cited by 2,277 · see citing works
Self-citationHoward, D. M., Adams, M. J., Clarke, T.-K., Hafferty, J. D., Gibson, J., Shirali, M., Coleman, J. R. I., Hagenaars, S. P., Ward, J., Wigmore, E. M., et al. (2019) · Nature Neuroscience · doi:10.1038/s41593-018-0326-7 · Cited by 2,565 · see citing works
Self-citation23andMe Research Team, Lee, J. J., COGENT (Cognitive Genomics Consortium), Social Science Genetic Association Consortium, Wedow, R., Okbay, A., Kong, E., Maghzian, O., Zacher, M., Nguyen-Viet, T. A., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0147-3 · Cited by 2,470 · see citing works
Self-citationADHD Working Group of the Psychiatric Genomics Consortium (PGC), Demontis, D., Early Lifecourse & Genetic Epidemiology (EAGLE) Consortium, 23andMe Research Team, Walters, R. K., Martin, J., Mattheisen, M., Als, T. D., Agerbo, E., Baldursson, G., et al. (2019) · Nature Genetics · doi:10.1038/s41588-018-0269-7 · Cited by 2,203 · see citing works
Self-citationAnalysis of shared heritability in common disorders of the brain
The Brainstorm Consortium, Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., et al. (2018) · Science · doi:10.1126/science.aap8757 · Cited by 1,924 · see citing works
Self-citation23andMe Research Team, Liu, M., Psychiatry, H. A.-I., Jiang, Y., Wedow, R., Li, Y., Brazel, D. M., Chen, F., Datta, G., Davila-Velderrain, J., et al. (2019) · Nature Genetics · doi:10.1038/s41588-018-0307-5 · Cited by 1,896 · see citing works
Self-citationGERAD1 Consortium, Pardiñas, A. F., CRESTAR Consortium, Holmans, P., Pocklington, A. J., Escott-Price, V., Ripke, S., Carrera, N., Legge, S. E., Bishop, S., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0059-2 · Cited by 1,552 · see citing works
Self-citationGenome-wide association study identifies 30 loci associated with bipolar disorder
eQTLGen Consortium, Stahl, E. A., BIOS Consortium, the Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Breen, G., Forstner, A. J., McQuillin, A., Ripke, S., Trubetskoy, V., Mattheisen, M., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0397-8 · Cited by 1,519 · see citing works
Self-citationModeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores
Vilhjálmsson, B. J., Yang, J., Finucane, H. K., Gusev, A., Lindström, S., Ripke, S., Genovese, G., Loh, P.-R., Bhatia, G., Do, R., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.09.001 · Cited by 1,303 · see citing works
Self-citationGenome-wide association study identifies 74 loci associated with educational attainment
Okbay, A., Beauchamp, J. P., Fontana, M. A., Lee, J. J., Pers, T. H., Rietveld, C. A., Turley, P., Chen, G.-B., Emilsson, V., Meddens, S. F. W., et al. (2016) · Nature · doi:10.1038/nature17671 · Cited by 1,297 · see citing works
Savage, J. E., Jansen, P. R., Stringer, S., Watanabe, K., Bryois, J., de Leeuw, C. A., Nagel, M., Awasthi, S., Barr, P. B., Coleman, J. R. I., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0152-6 · Cited by 1,443 · see citing works
Self-citationThe Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
Astle, W. J., Elding, H., Jiang, T., Allen, D., Ruklisa, D., Mann, A. L., Mead, D., Bouman, H., Riveros-Mckay, F., Kostadima, M. A., et al. (2016) · Cell · doi:10.1016/j.cell.2016.10.042 · Cited by 1,224 · see citing works
Transcriptome-scale spatial gene expression in the human dorsolateral prefrontal cortex
Maynard, K. R., Collado-Torres, L., Weber, L. M., Uytingco, C., Barry, B. K., Williams, S. R., Catallini, J. L., Tran, M. N., Besich, Z., Tippani, M., et al. (2021) · Nature Neuroscience · doi:10.1038/s41593-020-00787-0 · Cited by 1,222 · see citing works
van der Harst, P., & Verweij, N. (2018) · Circulation Research · doi:10.1161/circresaha.117.312086 · Cited by 1,141 · see citing works
Finucane, H. K., Reshef, Y. A., Anttila, V., Slowikowski, K., Gusev, A., Byrnes, A., Gazal, S., Loh, P.-R., Lareau, C., Shoresh, N., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0081-4 · Cited by 1,097 · see citing works
Self-citationTranscriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder
Gandal, M. J., Zhang, P., Hadjimichael, E., Walker, R. L., Chen, C., Liu, S., Won, H., van Bakel, H., Varghese, M., Wang, Y., et al. (2018) · Science · doi:10.1126/science.aat8127 · Cited by 1,247 · see citing works
Self-citationIntegrative omics for health and disease
Karczewski, K. J., & Snyder, M. P. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2018.4 · Cited by 1,158 · see citing works
Study, L. C., Okbay, A., Baselmans, B. M. L., De Neve, J.-E., Turley, P., Nivard, M. G., Fontana, M. A., Meddens, S. F. W., Linnér, R. K., Rietveld, C. A., et al. (2016) · Nature Genetics · doi:10.1038/ng.3552 · Cited by 1,013 · see citing works
Comprehensive functional genomic resource and integrative model for the human brain
Wang, D., Liu, S., Warrell, J., Won, H., Shi, X., Navarro, F. C. P., Clarke, D., Gu, M., Emani, P., Yang, Y. T., et al. (2018) · Science · doi:10.1126/science.aat8464 · Cited by 965 · see citing works
Self-citationInitiative, A. N. G., Watson, H. J., Eating Disorders Working Group of the Psychiatric Genomics Consortium, Yilmaz, Z., Thornton, L. M., Hübel, C., Coleman, J. R. I., Gaspar, H. A., Bryois, J., Hinney, A., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0439-2 · Cited by 1,109 · see citing works
Self-citationShared molecular neuropathology across major psychiatric disorders parallels polygenic overlap
Gandal, M. J., Haney, J. R., Parikshak, N. N., Leppa, V., Ramaswami, G., Hartl, C., Schork, A. J., Appadurai, V., Buil, A., Werge, T. M., et al. (2018) · Science · doi:10.1126/science.aad6469 · Cited by 1,095 · see citing works
Self-citationLeveraging Polygenic Functional Enrichment to Improve GWAS Power
Kichaev, G., Bhatia, G., Loh, P.-R., Gazal, S., Burch, K., Freund, M. K., Schoech, A., Pasaniuc, B., & Price, A. L. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.11.008 · Cited by 926 · see citing works
Self-citationSynGO: An Evidence-Based, Expert-Curated Knowledge Base for the Synapse
Koopmans, F., van Nierop, P., Andres-Alonso, M., Byrnes, A., Cijsouw, T., Coba, M. P., Cornelisse, L. N., Farrell, R. J., Goldschmidt, H. L., Howrigan, D. P., et al. (2019) · Neuron · doi:10.1016/j.neuron.2019.05.002 · Cited by 938 · see citing works
Self-citationDepression and obesity: evidence of shared biological mechanisms
Milaneschi, Y., Simmons, W. K., van Rossum, E. F. C., & Penninx, B. W. (2019) · Molecular Psychiatry · doi:10.1038/s41380-018-0017-5 · Cited by 1,073 · see citing works
Kanai, M., Akiyama, M., Takahashi, A., Matoba, N., Momozawa, Y., Ikeda, M., Iwata, N., Ikegawa, S., Hirata, M., Matsuda, K., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0047-6 · Cited by 801 · see citing works
Self-citationThe genetic architecture of the human cerebral cortex
Grasby, K. L., Jahanshad, N., Painter, J. N., Colodro-Conde, L., Bralten, J., Hibar, D. P., Lind, P. A., Pizzagalli, F., Ching, C. R. K., McMahon, M. A. B., et al. (2020) · Science · doi:10.1126/science.aay6690 · Cited by 876 · see citing works
Self-citationA Single-Cell Atlas of In Vivo Mammalian Chromatin Accessibility
Cusanovich, D. A., Hill, A. J., Aghamirzaie, D., Daza, R. M., Pliner, H. A., Berletch, J. B., Filippova, G. N., Huang, X., Christiansen, L., DeWitt, W. S., et al. (2018) · Cell · doi:10.1016/j.cell.2018.06.052 · Cited by 759 · see citing works
Zheng, J., Erzurumluoglu, A. M., Elsworth, B. L., Kemp, J. P., Howe, L., Haycock, P. C., Hemani, G., Tansey, K., Laurin, C., Early Genetics and Lifecourse Epidemiology (EAGLE) Eczema Consortium, et al. (2017) · Bioinformatics · doi:10.1093/bioinformatics/btw613 · Cited by 869 · see citing works
Self-citation23and Me Research Team, Karlsson Linnér, R., eQTLgen Consortium, International Cannabis Consortium, Social Science Genetic Association Consortium, Biroli, P., Kong, E., Meddens, S. F. W., Wedow, R., Fontana, M. A., et al. (2019) · Nature Genetics · doi:10.1038/s41588-018-0309-3 · Cited by 756 · see citing works
Self-citationAn atlas of genetic influences on osteoporosis in humans and mice
23andMe Research Team, Morris, J. A., Kemp, J. P., Youlten, S. E., Laurent, L., Logan, J. G., Chai, R. C., Vulpescu, N. A., Forgetta, V., Kleinman, A., et al. (2019) · Nature Genetics · doi:10.1038/s41588-018-0302-x · Cited by 773 · see citing works
Brain cell type–specific enhancer–promoter interactome maps and disease <b>-</b> risk association
Nott, A., Holtman, I. R., Coufal, N. G., Schlachetzki, J. C. M., Yu, M., Hu, R., Han, C. Z., Pena, M., Xiao, J., Wu, Y., et al. (2019) · Science · doi:10.1126/science.aay0793 · Cited by 823 · see citing works
RNA splicing is a primary link between genetic variation and disease
Li, Y. I., van de Geijn, B., Raj, A., Knowles, D. A., Petti, A. A., Golan, D., Gilad, Y., & Pritchard, J. K. (2016) · Science · doi:10.1126/science.aad9417 · Cited by 660 · see citing works
Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism
Parikshak, N. N., Swarup, V., Belgard, T. G., Irimia, M., Ramaswami, G., Gandal, M. J., Hartl, C., Leppa, V., Ubieta, L. D. L. T., Huang, J., et al. (2016) · Nature · doi:10.1038/nature20612 · Cited by 685 · see citing works
Comparative genetic architectures of schizophrenia in East Asian and European populations
Schizophrenia Working Group of the Psychiatric Genomics Consortium, Lam, M., Indonesia Schizophrenia Consortium, Genetic REsearch on schizophreniA neTwork-China and the Netherlands (GREAT-CN), Chen, C.-Y., Li, Z., Martin, A. R., Bryois, J., Ma, X., Gaspar, H., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0512-x · Cited by 655 · see citing works
Self-citationOkbay, A., Wu, Y., Wang, N., Jayashankar, H., Bennett, M., Nehzati, S. M., Sidorenko, J., Kweon, H., Goldman, G., Gjorgjieva, T., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01016-z · Cited by 654 · see citing works
Genetic identification of brain cell types underlying schizophrenia
Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Skene, N. G., Bryois, J., Bakken, T. E., Breen, G., Crowley, J. J., Gaspar, H. A., Giusti-Rodriguez, P., Hodge, R. D., Miller, J. A., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0129-5 · Cited by 651 · see citing works
Study, T. L. C., Day, F. R., The InterAct Consortium, kConFab/AOCS Investigators, Endometrial Cancer Association Consortium, Ovarian Cancer Association Consortium, PRACTICAL consortium, Thompson, D. J., Helgason, H., Chasman, D. I., et al. (2017) · Nature Genetics · doi:10.1038/ng.3841 · Cited by 587 · see citing works
Self-citationA Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation
Polioudakis, D., de la Torre-Ubieta, L., Langerman, J., Elkins, A. G., Shi, X., Stein, J. L., Vuong, C. K., Nichterwitz, S., Gevorgian, M., Opland, C. K., et al. (2019) · Neuron · doi:10.1016/j.neuron.2019.06.011 · Cited by 513 · see citing works
Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology
23andMe Research Team, Ferreira, M. A., collaborators, A., BIOS consortium, Study, L. C., Vonk, J. M., Baurecht, H., Marenholz, I., Tian, C., Hoffman, J. D., et al. (2017) · Nature Genetics · doi:10.1038/ng.3985 · Cited by 550 · see citing works
Chromosome conformation elucidates regulatory relationships in developing human brain
Won, H., de la Torre-Ubieta, L., Stein, J. L., Parikshak, N. N., Huang, J., Opland, C. K., Gandal, M. J., Sutton, G. J., Hormozdiari, F., Lu, D., et al. (2016) · Nature · doi:10.1038/nature19847 · Cited by 584 · see citing works
Gusev, A., Mancuso, N., Won, H., Kousi, M., Finucane, H. K., Reshef, Y., Song, L., Safi, A., Schizophrenia Working Group of the Psychiatric Genomics Consortium, McCarroll, S., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0092-1 · Cited by 491 · see citing works
Self-citationTranscriptional and Cellular Diversity of the Human Heart
Tucker, N. R., Chaffin, M., Fleming, S. J., Hall, A. W., Parsons, V. A., Bedi, K. C., Akkad, A.-D., Herndon, C. N., Arduini, A., Papangeli, I., et al. (2020) · Circulation · doi:10.1161/circulationaha.119.045401 · Cited by 554 · see citing works
Schizophrenia Working Group of the Psychiatric Genomics Consortium, Loh, P.-R., Bhatia, G., Gusev, A., Finucane, H. K., Bulik-Sullivan, B. K., Pollack, S. J., de Candia, T. R., Lee, S. H., Wray, N. R., et al. (2015) · Nature Genetics · doi:10.1038/ng.3431 · Cited by 449 · see citing works
Self-citationIshigaki, K., Akiyama, M., Kanai, M., Takahashi, A., Kawakami, E., Sugishita, H., Sakaue, S., Matoba, N., Low, S.-K., Okada, Y., et al. (2020) · Nature Genetics · doi:10.1038/s41588-020-0640-3 · Cited by 508 · see citing works
Self-citationGazal, S., Finucane, H. K., Furlotte, N. A., Loh, P.-R., Palamara, P. F., Liu, X., Schoech, A., Bulik-Sullivan, B., Neale, B. M., Gusev, A., et al. (2017) · Nature Genetics · doi:10.1038/ng.3954 · Cited by 525 · see citing works
Self-citationThe International League Against Epilepsy Consortium on Complex Epilepsies, Abou-Khalil, B., Auce, P., Avbersek, A., Bahlo, M., Balding, D. J., Bast, T., Baum, L., Becker, A. J., Becker, F., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-07524-z · Cited by 482 · see citing works
Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation
Min, J. L., Hemani, G., Hannon, E., Dekkers, K. F., Castillo-Fernandez, J., Luijk, R., Carnero-Montoro, E., Lawson, D. J., Burrows, K., Suderman, M., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00923-x · Cited by 506 · see citing works
Self-citationIncreased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
Genovese, G., Fromer, M., Stahl, E. A., Ruderfer, D. M., Chambert, K., Landén, M., Moran, J. L., Purcell, S. M., Sklar, P., Sullivan, P. F., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4402 · Cited by 444 · see citing works
Self-citationGTEx Consortium, Gamazon, E. R., Segrè, A. V., van de Bunt, M., Wen, X., Xi, H. S., Hormozdiari, F., Ongen, H., Konkashbaev, A., Derks, E. M., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0154-4 · Cited by 412 · see citing works
A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease
The International Genomics of Alzheimer's Project, Huang, K.-L., Initiative, T. A. D. N., Marcora, E., Pimenova, A. A., Di Narzo, A. F., Kapoor, M., Jin, S. C., Harari, O., Bertelsen, S., et al. (2017) · Nature Neuroscience · doi:10.1038/nn.4587 · Cited by 423 · see citing works
Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association Data
Shi, H., Kichaev, G., & Pasaniuc, B. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.05.013 · Cited by 387 · see citing works
The PRACTICAL Consortium, Day, F. R., kConFab Investigators, AOCS Investigators, Scotland, G., EPIC-InterAct Consortium, Study, L. C., Ruth, K. S., Thompson, D. J., Lunetta, K. L., et al. (2015) · Nature Genetics · doi:10.1038/ng.3412 · Cited by 402 · see citing works
Self-citationYu, D., Sul, J. H., Tsetsos, F., Nawaz, M. S., Huang, A. Y., Zelaya, I., Illmann, C., Osiecki, L., Darrow, S. M., Hirschtritt, M. E., et al. (2019) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2018.18070857 · Cited by 410 · see citing works
Self-citationGWAS identifies 14 loci for device-measured physical activity and sleep duration
Doherty, A., Smith-Byrne, K., Ferreira, T., Holmes, M. V., Holmes, C., Pulit, S. L., & Lindgren, C. M. (2018) · Nature Communications · doi:10.1038/s41467-018-07743-4 · Cited by 408 · see citing works
Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior
Ganna, A., Verweij, K. J. H., Nivard, M. G., Maier, R., Wedow, R., Busch, A. S., Abdellaoui, A., Guo, S., Sathirapongsasuti, J. F., 23andMe Research Team, et al. (2019) · Science · doi:10.1126/science.aat7693 · Cited by 406 · see citing works
Self-citationThe Dynamic Landscape of Open Chromatin during Human Cortical Neurogenesis
de la Torre-Ubieta, L., Stein, J. L., Won, H., Opland, C. K., Liang, D., Lu, D., & Geschwind, D. H. (2018) · Cell · doi:10.1016/j.cell.2017.12.014 · Cited by 353 · see citing works
Global reference mapping of human transcription factor footprints
Vierstra, J., Lazar, J., Sandstrom, R., Halow, J., Lee, K., Bates, D., Diegel, M., Dunn, D., Neri, F., Haugen, E., et al. (2020) · Nature · doi:10.1038/s41586-020-2528-x · Cited by 386 · see citing works
Minimal phenotyping yields genome-wide association signals of low specificity for major depression
MDD Working Group of the Psychiatric Genomics Consortium, Cai, N., Revez, J. A., Adams, M. J., Andlauer, T. F. M., Breen, G., Byrne, E. M., Clarke, T.-K., Forstner, A. J., Grabe, H. J., et al. (2020) · Nature Genetics · doi:10.1038/s41588-020-0594-5 · Cited by 344 · see citing works
Corces, M. R., Shcherbina, A., Kundu, S., Gloudemans, M. J., Frésard, L., Granja, J. M., Louie, B. H., Eulalio, T., Shams, S., Bagdatli, S. T., et al. (2020) · Nature Genetics · doi:10.1038/s41588-020-00721-x · Cited by 358 · see citing works
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls
Platform, B. G., Flannick, J., DiscovEHR Collaboration, CHARGE, LuCamp, ProDiGY, GoT2D, ESP, SIGMA-T2D, T2D-GENES, et al. (2019) · Nature · doi:10.1038/s41586-019-1231-2 · Cited by 304 · see citing works
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
Niemi, M. E. K., Martin, H. C., Rice, D. L., Gallone, G., Gordon, S., Kelemen, M., McAloney, K., McRae, J., Radford, E. J., Yu, S., et al. (2018) · Nature · doi:10.1038/s41586-018-0566-4 · Cited by 340 · see citing works
Systematic differences in discovery of genetic effects on gene expression and complex traits
Mostafavi, H., Spence, J. P., Naqvi, S., & Pritchard, J. K. (2023) · Nature Genetics · doi:10.1038/s41588-023-01529-1 · Cited by 336 · see citing works
Index and biological spectrum of human DNase I hypersensitive sites
Meuleman, W., Muratov, A., Rynes, E., Halow, J., Lee, K., Bates, D., Diegel, M., Dunn, D., Neri, F., Teodosiadis, A., et al. (2020) · Nature · doi:10.1038/s41586-020-2559-3 · Cited by 331 · see citing works
Deconstructing the sources of genotype-phenotype associations in humans
Young, A. I., Benonisdottir, S., Przeworski, M., & Kong, A. (2019) · Science · doi:10.1126/science.aax3710 · Cited by 288 · see citing works
Lane, J. M., Vlasac, I., Anderson, S. G., Kyle, S. D., Dixon, W. G., Bechtold, D. A., Gill, S., Little, M. A., Luik, A., Loudon, A., et al. (2016) · Nature Communications · doi:10.1038/ncomms10889 · Cited by 312 · see citing works
Multivariate genome-wide analyses of the well-being spectrum
BIOS consortium, Baselmans, B. M. L., Social Science Genetic Association Consortium, Jansen, R., Ip, H. F., van Dongen, J., Abdellaoui, A., van de Weijer, M. P., Bao, Y., Smart, M., et al. (2019) · Nature Genetics · doi:10.1038/s41588-018-0320-8 · Cited by 320 · see citing works
Hill, W. D., Marioni, R. E., Maghzian, O., Ritchie, S. J., Hagenaars, S. P., McIntosh, A. M., Gale, C. R., Davies, G., & Deary, I. J. (2019) · Molecular Psychiatry · doi:10.1038/s41380-017-0001-5 · Cited by 311 · see citing works
Novel genetic loci associated with hippocampal volume
Hibar, D. P., Adams, H. H. H., Jahanshad, N., Chauhan, G., Stein, J. L., Hofer, E., Renteria, M. E., Bis, J. C., Arias-Vasquez, A., Ikram, M. K., et al. (2017) · Nature Communications · doi:10.1038/ncomms13624 · Cited by 299 · see citing works
Sey, N. Y. A., Hu, B., Mah, W., Fauni, H., McAfee, J. C., Rajarajan, P., Brennand, K. J., Akbarian, S., & Won, H. (2020) · Nature Neuroscience · doi:10.1038/s41593-020-0603-0 · Cited by 297 · see citing works
Haplotype Reference Consortium, Evans, L. M., Tahmasbi, R., Vrieze, S. I., Abecasis, G. R., Das, S., Gazal, S., Bjelland, D. W., de Candia, T. R., Goddard, M. E., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0108-x · Cited by 239 · see citing works
Self-citationExtreme Polygenicity of Complex Traits Is Explained by Negative Selection
O'Connor, L. J., Schoech, A. P., Hormozdiari, F., Gazal, S., Patterson, N., & Price, A. L. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.07.003 · Cited by 268 · see citing works
Self-citationGenetic correlates of social stratification in Great Britain
Abdellaoui, A., Hugh-Jones, D., Yengo, L., Kemper, K. E., Nivard, M. G., Veul, L., Holtz, Y., Zietsch, B. P., Frayling, T. M., Wray, N. R., et al. (2019) · Nature Human Behaviour · doi:10.1038/s41562-019-0757-5 · Cited by 261 · see citing works
SumHer better estimates the SNP heritability of complex traits from summary statistics
Speed, D., & Balding, D. J. (2019) · Nature Genetics · doi:10.1038/s41588-018-0279-5 · Cited by 254 · see citing works
Chromatin accessibility dynamics in a model of human forebrain development
Trevino, A. E., Sinnott-Armstrong, N., Andersen, J., Yoon, S.-J., Huber, N., Pritchard, J. K., Chang, H. Y., Greenleaf, W. J., & Pașca, S. P. (2020) · Science · doi:10.1126/science.aay1645 · Cited by 251 · see citing works
Locus for severity implicates CNS resilience in progression of multiple sclerosis
International Multiple Sclerosis Genetics Consortium, Harroud, A., Stridh, P., McCauley, J. L., Saarela, J., van den Bosch, A. M. R., Engelenburg, H. J., Beecham, A. H., Alfredsson, L., Alikhani, K., et al. (2023) · Nature · doi:10.1038/s41586-023-06250-x · Cited by 243 · see citing works
Novikova, G., Kapoor, M., TCW, J., Abud, E. M., Efthymiou, A. G., Chen, S. X., Cheng, H., Fullard, J. F., Bendl, J., Liu, Y., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-21823-y · Cited by 214 · see citing works
The road to precision psychiatry: translating genetics into disease mechanisms
Gandal, M. J., Leppa, V., Won, H., Parikshak, N. N., & Geschwind, D. H. (2016) · Nature Neuroscience · doi:10.1038/nn.4409 · Cited by 223 · see citing works
Marzi, S. J., Leung, S. K., Ribarska, T., Hannon, E., Smith, A. R., Pishva, E., Poschmann, J., Moore, K., Troakes, C., Al-Sarraj, S., et al. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0253-7 · Cited by 232 · see citing works
Tran, M. N., Maynard, K. R., Spangler, A., Huuki, L. A., Montgomery, K. D., Sadashivaiah, V., Tippani, M., Barry, B. K., Hancock, D. B., Hicks, S. C., et al. (2021) · Neuron · doi:10.1016/j.neuron.2021.09.001 · Cited by 219 · see citing works
Recovery of trait heritability from whole genome sequence data
Wainschtein, P., Jain, D., Zheng, Z., TOPMed Anthropometry Working Group, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Cupples, L. A., Shadyab, A. H., McKnight, B., Shoemaker, B. M., Mitchell, B. D., et al. (2019) · doi:10.1101/588020 · Cited by 515 · see citing works
Genetic determinants of co-accessible chromatin regions in activated T cells across humans
Gate, R. E., Cheng, C. S., Aiden, A. P., Siba, A., Tabaka, M., Lituiev, D., Machol, I., Gordon, M. G., Subramaniam, M., Shamim, M., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0156-2 · Cited by 181 · see citing works
Interrogation of human hematopoiesis at single-cell and single-variant resolution
Ulirsch, J. C., Lareau, C. A., Bao, E. L., Ludwig, L. S., Guo, M. H., Benner, C., Satpathy, A. T., Kartha, V. K., Salem, R. M., Hirschhorn, J. N., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0362-6 · Cited by 208 · see citing works
Self-citationGenome-Wide Association Studies of a Broad Spectrum of Antisocial Behavior
Tielbeek, J. J., Johansson, A., Polderman, T. J. C., Rautiainen, M.-R., Jansen, P., Taylor, M., Tong, X., Lu, Q., Burt, A. S., Tiemeier, H., et al. (2017) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2017.3069 · Cited by 194 · see citing works
Self-citationCombining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity
Gazal, S., Weissbrod, O., Hormozdiari, F., Dey, K. K., Nasser, J., Jagadeesh, K. A., Weiner, D. J., Shi, H., Fulco, C. P., O’Connor, L. J., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01087-y · Cited by 181 · see citing works
Self-citationStrausz, S., Ruotsalainen, S., Ollila, H. M., Karjalainen, J., Kiiskinen, T., Reeve, M., Kurki, M., Mars, N., Havulinna, A. S., Luonsi, E., et al. (2021) · European Respiratory Journal · doi:10.1183/13993003.03091-2020 · Cited by 194 · see citing works
Functional enhancer elements drive subclass-selective expression from mouse to primate neocortex
Mich, J. K., Graybuck, L. T., Hess, E. E., Mahoney, J. T., Kojima, Y., Ding, Y., Somasundaram, S., Miller, J. A., Kalmbach, B. E., Radaelli, C., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.108754 · Cited by 193 · see citing works
Evaluation of chromatin accessibility in prefrontal cortex of individuals with schizophrenia
Bryois, J., Garrett, M. E., Song, L., Safi, A., Giusti-Rodriguez, P., Johnson, G. D., Shieh, A. W., Buil, A., Fullard, J. F., Roussos, P., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-05379-y · Cited by 167 · see citing works
Neuronal defects in a human cellular model of 22q11.2 deletion syndrome
Khan, T. A., Revah, O., Gordon, A., Yoon, S.-J., Krawisz, A. K., Goold, C., Sun, Y., Kim, C. H., Tian, Y., Li, M.-Y., et al. (2020) · Nature Medicine · doi:10.1038/s41591-020-1043-9 · Cited by 186 · see citing works
Hughes, C. D., Choi, M. L., Ryten, M., Hopkins, L., Drews, A., Botía, J. A., Iljina, M., Rodrigues, M., Gagliano, S. A., Gandhi, S., et al. (2019) · Acta Neuropathologica · doi:10.1007/s00401-018-1907-y · Cited by 177 · see citing works
Zeng, J., Xue, A., Jiang, L., Lloyd-Jones, L. R., Wu, Y., Wang, H., Zheng, Z., Yengo, L., Kemper, K. E., Goddard, M. E., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-21446-3 · Cited by 144 · see citing works
Progress and promise in understanding the genetic basis of common diseases
Price, A. L., Spencer, C. C. A., & Donnelly, P. (2015) · Proceedings of the Royal Society B: Biological Sciences · doi:10.1098/rspb.2015.1684 · Cited by 147 · see citing works
Self-citation
- Authors
- ReproGen Consortium, Finucane, H. K., Schizophrenia Working Group of the Psychiatric Genomics Consortium, The RACI Consortium, Bulik-Sullivan, B., Gusev, A., Trynka, G., Reshef, Y., Loh, P.-R., Anttila, V., Xu, H., Zang, C., Farh, K., Ripke, S., Day, F. R., Purcell, S., Stahl, E., Lindstrom, S., Perry, J. R. B., Okada, Y., Raychaudhuri, S., Daly, M. J., Patterson, N., Neale, B. M., & Price, A. L.
- Affiliations
- Harvard University (US)
- Broad Institute (US)
- University of Cambridge (GB)
- Brigham and Women's Hospital (US)
- Icahn School of Medicine at Mount Sinai (US)
- Tokyo Medical and Dental University (JP)
- Corresponding author
- Finucane, Hilary K
- Bulik-Sullivan, Brendan
- Neale, Benjamin M
- Price, Alkes L
- ORCID
- Venue
- Nature Genetics
- Published
- 2015-09-28
- Volume
- 47
- Issue
- 11
- Pages
- 1228-1235
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC4626285
- OpenAlex
- W1844405070
- Cited by
- 2,604
- References
- 56
- Citations by year
- 2026: 248 · 2025: 319 · 2024: 390 · 2023: 276 · 2022: 284 · 2021: 283 · 2020: 222 · 2019: 200 · 2018: 182 · 2017: 102 · 2016: 83 · 2015: 12 · 2014: 1
- FWCI
- 86.84
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Licence
- cc-by-nd
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nd)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- PubMed Central (acceptedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- NOVA (University of Newcastle Australia) (submittedVersion)
- Funders
- Arthritis Foundation
- Hertz Foundation
- Wellcome Trust (WT 098051, 076113)
- Lundbeckfonden (R155-2014-1724)
- National Institutes of Health (5r01ar063759-07, MH101244)
- Medical Research Council (MC_UU_12015/2)
- Japan Society for the Promotion of Science (15H05911, 15H05670)
- National Institute of Mental Health (R01MH101244)
- National Human Genome Research Institute (R01HG006399, U01 HG0070033)
- National Cancer Institute (R03CA173785, R21CA182821)
- National Institute of General Medical Sciences (F32GM106584, T32GM007753, T32GM007748)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01-AR063759)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- functional annotation, complex diseases, conserved genomic regions, polygenic risk, body mass index, age at menarche, educational attainment, smoking behavior, immune disorders, GWAS summary statistics
- MeSH terms
- Algorithms, Computer Simulation, Disease, Female, Gene Frequency, Histones, Humans, Lysine, Male, Methylation, Models, Genetic, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Inheritance Patterns, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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