LocusZoom: regional visualization of genome-wide association scan results

The Human Genome Browser at UCSC

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Finding the missing heritability of complex diseases

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SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap

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Common variants at 30 loci contribute to polygenic dyslipidemia

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Common variants near MC4R are associated with fat mass, weight and risk of obesity

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CandiSNPer: a web tool for the identification of candidate SNPs for causal variants

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Visualizing SNP statistics in the context of linkage disequilibrium using LD-Plus

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VALID: visualization of association study results and linkage disequilibrium

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Genetic studies of body mass index yield new insights for obesity biology

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Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics

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The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

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Functional mapping and annotation of genetic associations with FUMA

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Meta-Analysis of 74,046 Individuals Identifies 11 New Susceptibility Loci for Alzheimer’s Disease

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Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions

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Genome-wide association studies

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Genome-wide patterns of selection in 230 ancient Eurasians

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Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

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A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease

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Identification of seven loci affecting mean telomere length and their association with disease

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Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases

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Sparse whole-genome sequencing identifies two loci for major depressive disorder

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Innate Immune Activity Conditions the Effect of Regulatory Variants upon Monocyte Gene Expression

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Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis

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Seven new loci associated with age-related macular degeneration

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Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome

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Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways

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International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci

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Late onset Alzheimer’s disease genetics implicates microglial pathways in disease risk

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TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A

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A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis

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Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

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Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles

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Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence

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Polarization of the Effects of Autoimmune and Neurodegenerative Risk Alleles in Leukocytes

Raj, T., Rothamel, K., Mostafavi, S., Ye, C., Lee, M. N., Replogle, J. M., Feng, T., Lee, M., Asinovski, N., Frohlich, I., et al. (2014) · Science · doi:10.1126/science.1249547 · Cited by 506 · see citing works

Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation

GTEx 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

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Consortium for Refractive Error and Myopia (CREAM), Verhoeven, V. J. M., The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Research Group, Wellcome Trust Case Control Consortium 2 (WTCCC2), The Fuchs' Genetics Multi-Center Study Group, Hysi, P. G., Wojciechowski, R., Fan, Q., Guggenheim, J. A., Höhn, R., et al. (2013) · Nature Genetics · doi:10.1038/ng.2554 · Cited by 487 · 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

Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci

Jones, S. E., Tyrrell, J., Wood, A. R., Beaumont, R. N., Ruth, K. S., Tuke, M. A., Yaghootkar, H., Hu, Y., Teder-Laving, M., Hayward, C., et al. (2016) · PLOS Genetics · doi:10.1371/journal.pgen.1006125 · Cited by 388 · see citing works

Genome-wide meta-analysis identifies new susceptibility loci for migraine

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Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

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Functional IL6R 358Ala Allele Impairs Classical IL-6 Receptor Signaling and Influences Risk of Diverse Inflammatory Diseases

Ferreira, R. C., Freitag, D. F., Cutler, A. J., Howson, J. M. M., Rainbow, D. B., Smyth, D. J., Kaptoge, S., Clarke, P., Boreham, C., Coulson, R. M., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003444 · Cited by 316 · see citing works

Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History

Liu, S., Huang, S., Chen, F., Zhao, L., Yuan, Y., Francis, S. S., Fang, L., Li, Z., Lin, L., Liu, R., et al. (2018) · Cell · doi:10.1016/j.cell.2018.08.016 · Cited by 279 · see citing works

Meta-analysis of Genome-wide Association Studies Identifies 1q22 as a Susceptibility Locus for Intracerebral Hemorrhage

Woo, D., Falcone, G. J., Devan, W. J., Brown, W. M., Biffi, A., Howard, T. D., Anderson, C. D., Brouwers, H. B., Valant, V., Battey, T. W. K., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.02.012 · Cited by 290 · see citing works

Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders

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Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2

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The <i>MS4A</i> gene cluster is a key modulator of soluble TREM2 and Alzheimer’s disease risk

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Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

Bis, J. C., Jian, X., Kunkle, B. W., Chen, Y., Hamilton-Nelson, K. L., Bush, W. S., Salerno, W. J., Lancour, D., Ma, Y., Renton, A. E., et al. (2020) · Molecular Psychiatry · doi:10.1038/s41380-018-0112-7 · Cited by 248 · see citing works

Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization

Australian Asthma Genetics Consortium (AAGC), Bønnelykke, K., the EArly Genetics and Lifecourse Epidemiology (EAGLE) Consortium, Matheson, M. C., Pers, T. H., Granell, R., Strachan, D. P., Alves, A. C., Linneberg, A., Curtin, J. A., et al. (2013) · Nature Genetics · doi:10.1038/ng.2694 · Cited by 244 · see citing works

Genome-wide association study identifies four novel loci associated with Alzheimer’s endophenotypes and disease modifiers

(ADNI), A. D. N. I., Deming, Y., The Alzheimer Disease Genetic Consortium (ADGC), Li, Z., Kapoor, M., Harari, O., Del-Aguila, J. L., Black, K., Carrell, D., Cai, Y., et al. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1685-y · Cited by 231 · see citing works

Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection

International Stroke Genetics Consortium, Debette, S., the CADISP group, Kamatani, Y., Metso, T. M., Kloss, M., Chauhan, G., Engelter, S. T., Pezzini, A., Thijs, V., et al. (2015) · Nature Genetics · doi:10.1038/ng.3154 · Cited by 231 · see citing works

Modulation of long noncoding RNAs by risk SNPs underlying genetic predispositions to prostate cancer

Guo, H., Ahmed, M., Zhang, F., Yao, C. Q., Li, S., Liang, Y., Hua, J., Soares, F., Sun, Y., Langstein, J., et al. (2016) · Nature Genetics · doi:10.1038/ng.3637 · Cited by 226 · see citing works

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

Kouri, N., Ross, O. A., Dombroski, B., Younkin, C. S., Serie, D. J., Soto-Ortolaza, A., Baker, M., Finch, N. C. A., Yoon, H., Kim, J., et al. (2015) · Nature Communications · doi:10.1038/ncomms8247 · Cited by 219 · see citing works

A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation

Adhikari, K., Fuentes-Guajardo, M., Quinto-Sánchez, M., Mendoza-Revilla, J., Camilo Chacón-Duque, J., Acuña-Alonzo, V., Jaramillo, C., Arias, W., Lozano, R. B., Pérez, G. M., et al. (2016) · Nature Communications · doi:10.1038/ncomms11616 · Cited by 200 · see citing works

Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture

Kim, S. K. (2018) · PLOS ONE · doi:10.1371/journal.pone.0200785 · Cited by 185 · see citing works

Exploring the association of genetic factors with participation in the Avon Longitudinal Study of Parents and Children

Taylor, A. E., Jones, H. J., Sallis, H., Euesden, J., Stergiakouli, E., Davies, N. M., Zammit, S., Lawlor, D. A., Munafò, M. R., Davey Smith, G., et al. (2018) · International Journal of Epidemiology · doi:10.1093/ije/dyy060 · Cited by 192 · see citing works

Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci

Tsoi, L. C., Spain, S. L., Ellinghaus, E., Stuart, P. E., Capon, F., Knight, J., Tejasvi, T., Kang, H. M., Allen, M. H., Lambert, S., et al. (2015) · Nature Communications · doi:10.1038/ncomms8001 · Cited by 195 · see citing works

Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up

Liu, F., Visser, M., Duffy, D. L., Hysi, P. G., Jacobs, L. C., Lao, O., Zhong, K., Walsh, S., Chaitanya, L., Wollstein, A., et al. (2015) · Human Genetics · doi:10.1007/s00439-015-1559-0 · Cited by 172 · see citing works

No evidence of a common DNA variant profile specific to world class endurance athletes.

Rankinen, T., Fuku, N., Wolfarth, B., Wang, G., Sarzynski, M. A., Alexeev, D. G., Ahmetov, I. I., Boulay, M. R., Cieszczyk, P., Eynon, N., et al. (2016) · PLOS ONE · doi:10.1371/journal.pone.0147330 · Cited by 171 · see citing works

Genetics of suicide attempts in individuals with and without mental disorders: a population-based genome-wide association study

Erlangsen, A., Appadurai, V., Wang, Y., Turecki, G., Mors, O., Werge, T., Mortensen, P. B., Starnawska, A., Børglum, A. D., Schork, A., et al. (2020) · Molecular Psychiatry · doi:10.1038/s41380-018-0218-y · Cited by 157 · see citing works

Insights into the genetic architecture of the human face

White, J. D., Indencleef, K., Naqvi, S., Eller, R. J., Hoskens, H., Roosenboom, J., Lee, M. K., Li, J., Mohammed, J., Richmond, S., et al. (2021) · Nature Genetics · doi:10.1038/s41588-020-00741-7 · Cited by 166 · see citing works

Differential Aging Analysis in Human Cerebral Cortex Identifies Variants in TMEM106B and GRN that Regulate Aging Phenotypes

Rhinn, H., & Abeliovich, A. (2017) · Cell Systems · doi:10.1016/j.cels.2017.02.009 · Cited by 130 · see citing works

CD33: increased inclusion of exon 2 implicates the Ig V-set domain in Alzheimer’s disease susceptibility

Raj, T., Ryan, K. J., Replogle, J. M., Chibnik, L. B., Rosenkrantz, L., Tang, A., Rothamel, K., Stranger, B. E., Bennett, D. A., Evans, D. A., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddt666 · Cited by 144 · see citing works

Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study

Jorgenson, E., Thai, K. K., Hoffmann, T. J., Sakoda, L. C., Kvale, M. N., Banda, Y., Schaefer, C., Risch, N., Mertens, J., Weisner, C., et al. (2017) · Molecular Psychiatry · doi:10.1038/mp.2017.101 · Cited by 136 · see citing works

A genome-wide association study identifies six novel risk loci for primary biliary cholangitis

Qiu, F., Tang, R., Zuo, X., Shi, X., Wei, Y., Zheng, X., Dai, Y., Gong, Y., Wang, L., Xu, P., et al. (2017) · Nature Communications · doi:10.1038/ncomms14828 · Cited by 140 · see citing works

Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans

Cade, B. E., Chen, H., Stilp, A. M., Gleason, K. J., Sofer, T., Ancoli-Israel, S., Arens, R., Bell, G. I., Below, J. E., Bjonnes, A. C., et al. (2016) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201512-2431oc · Cited by 134 · see citing works

A transcriptome-wide association study identifies PALMD as a susceptibility gene for calcific aortic valve stenosis

Thériault, S., Gaudreault, N., Lamontagne, M., Rosa, M., Boulanger, M.-C., Messika-Zeitoun, D., Clavel, M.-A., Capoulade, R., Dagenais, F., Pibarot, P., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-03260-6 · Cited by 135 · see citing works

Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes

Ruth, K. S., Campbell, P. J., Chew, S., Lim, E. M., Hadlow, N., Stuckey, B. G., Brown, S. J., Feenstra, B., Joseph, J., Surdulescu, G. L., et al. (2016) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.102 · Cited by 121 · see citing works

Non-coding variability at the APOE locus contributes to the Alzheimer’s risk

Zhou, X., Chen, Y., Mok, K. Y., Kwok, T. C. Y., Mok, V. C. T., Guo, Q., Ip, F. C., Chen, Y., Mullapudi, N., Initiative, A. D. N., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-10945-z · Cited by 120 · see citing works

A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the <i>OAS1</i> gene

Magusali, N., Graham, A. C., Piers, T. M., Panichnantakul, P., Yaman, U., Shoai, M., Reynolds, R. H., Botia, J. A., Brookes, K. J., Guetta-Baranes, T., et al. (2021) · Brain · doi:10.1093/brain/awab337 · Cited by 111 · see citing works

Shared genetic background between children and adults with attention deficit/hyperactivity disorder

Rovira, P., Demontis, D., Sánchez-Mora, C., Zayats, T., Klein, M., Mota, N. R., Weber, H., Garcia-Martínez, I., Pagerols, M., Vilar-Ribó, L., et al. (2020) · Neuropsychopharmacology · doi:10.1038/s41386-020-0664-5 · Cited by 111 · see citing works

A genome-wide association study identifies multiple loci for variation in human ear morphology

Adhikari, K., Reales, G., Smith, A. J. P., Konka, E., Palmen, J., Quinto-Sanchez, M., Acuña-Alonzo, V., Jaramillo, C., Arias, W., Fuentes, M., et al. (2015) · Nature Communications · doi:10.1038/ncomms8500 · Cited by 95 · see citing works

Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure

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Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression

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Exploring Human-Genome Gut-Microbiome Interaction in Parkinson’s Disease

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Multi-trait association studies discover pleiotropic loci between Alzheimer’s disease and cardiometabolic traits

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Genome-Wide Association Study of Autistic-Like Traits in a General Population Study of Young Adults

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Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits

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Meta-analysis of GWAS on both Chinese and European populations identifies GPR173 as a novel X chromosome susceptibility gene for SLE

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A regulatory variant at 19p13.3 is associated with primary biliary cholangitis risk and ARID3A expression

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Fine-mapping across diverse ancestries drives the discovery of putative causal variants underlying human complex traits and diseases

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Dissecting the Genetic Architecture of Cystatin C in Diversity Outbred Mice

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Genome-wide association study identifies SIAH3 locus influencing the rate of ventricular enlargement in non-demented elders

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PLCG2 as a Risk Factor for Alzheimer's Disease.

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