Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics.
paper
Cited
Public
- Authors
- Ghoussaini, Maya; Mountjoy, Edward; Carmona, Miguel; Peat, Gareth; Schmidt, Ellen M; Hercules, Andrew; Fumis, Luca; Miranda, Alfredo; Carvalho-Silva, Denise; Buniello, Annalisa; Burdett, Tony; Hayhurst, James; Baker, Jarrod; Ferrer, Javier; Gonzalez-Uriarte, Asier; Jupp, Simon; Karim, Mohd Anisul; Koscielny, Gautier; Machlitt-Northen, Sandra; Malangone, Cinzia; Pendlington, Zoe May; Roncaglia, Paola; Suveges, Daniel; Wright, Daniel; Vrousgou, Olga; Papa, Eliseo; Parkinson, Helen; MacArthur, Jacqueline A L; Todd, John A; Barrett, Jeffrey C; Schwartzentruber, Jeremy; Hulcoop, David G; Ochoa, David; McDonagh, Ellen M; Dunham, Ian
- Year
- 2021
- Journal
- Nucleic acids research
- PMID
- 33045747
- DOI
- 10.1093/nar/gkaa840
- PMCID
- PMC7778936
Open Targets Genetics (https://genetics.opentargets.org) is an open-access integrative resource that aggregates human GWAS and functional genomics data including gene expression, protein abundance, chromatin interaction and conformation data from a wide range of cell types and tissues to make robust connections between GWAS-associated loci, variants and likely causal genes. This enables systematic identification and prioritisation of likely causal variants and genes across all published trait-associated loci. In this paper, we describe the public resources we aggregate, the technology and analyses we use, and the functionality that the portal offers. Open Targets Genetics can be searched by variant, gene or study/phenotype. It offers tools that enable users to prioritise causal variants and genes at disease-associated loci and access systematic cross-disease and disease-molecular trait colocalization analysis across 92 cell types and tissues including the eQTL Catalogue. Data visualizations such as Manhattan-like plots, regional plots, credible sets overlap between studies and PheWAS plots enable users to explore GWAS signals in depth. The integrated data is made available through the web portal, for bulk download and via a GraphQL API, and the software is open source. Applications of this integrated data include identification of novel targets for drug discovery and drug repurposing.
Data resources, ingestion process, data analyses and accessibility of the Open Target Genetics Portal. (A) The datasets ingested into Open Targets Genetics, (B) the data ingest and mapping processes, (C) statistical genetics analyses carried out, (D) the Locus to Gene pipeline (L2G), (E) accessibility options for users. Abbreviations: API; Application Programming Interface, EFO; experimental factor ontology, EMBL-EBI; European Molecular Biology Laboratory β European Bioinformatics Institute, LD; linkage disequilibrium, FTP; file transfer protocol.
LLM interpretation
This figure is a workflow diagram illustrating the data pipeline of the Open Targets Genetics Portal, divided into five sequential stages (A-E). It maps the progression from data sources (GWAS, QTL, and other datasets) through ingestion and mapping (B), statistical genetics analyses (C), and the Locus to Gene (L2G) causal inference pipeline (D), ending with user interface and programmatic access options (E). A color-coded legend indicates whether each step involves study/trait data (blue), lead/tag variant data (light blue), or gene data (dark blue).
Study-trait page. The study-trait page in the Open Targets Portal for the associated trait inflammatory bowel disease from the study (22). Abbreviations: IBD; inflammatory bowel disease, ID; identifier, GWAS; Genome-wide association study, LD; linkage disequilibrium, L2G; locus-to-gene, SNP; single nucleotide polymorphism.
LLM interpretation
This figure is a multi-panel diagram (A-D) illustrating the user interface of the Open Targets Portal study-trait page for inflammatory bowel disease (IBD). It features a study summary (A), a Manhattan plot showing independently associated loci (B), a detailed table of lead variants and prioritized genes such as *ITGA4* (C), and a comparison tool for overlapping studies (D). Red annotations and arrows are used to highlight specific functional elements and data points within the portal.
Variant page. (A) Each variant in the Open Targets Genetics Portal is represented with a standardised identifier of: chromosome_chromosomal location (Build GRCh38)_reference allele_alternative allele. Overview information is provided for the variant at the top of the page, such as allele frequency and predicted functional consequence. (B) Assigned genes using the Variant to Gene score and expression data evidence for the link between the variant and gene. (C) PheWAS plot and data. Abbreviations: eQTL; expression quantitative trait loci, LD; linkage disequilibrium, PheWAS; phenome wide association study, V2G; variant to gene.
LLM interpretation
This figure is a multi-panel layout illustrating the "Variant page" of the Open Targets Genetics Portal. Panel A shows a data table with variant identifiers, allele frequencies, and functional consequences; Panel B displays a list of assigned genes based on Variant to Gene (V2G) scores and associated eQTL evidence. Panel C features a PheWAS plot showing variant-trait associations across various diseases, accompanied by a detailed data table below the plot.
Gene page. (A) Overview of the gene and chromosome location (Build GRCh38), with links to the Open Targets Platform and other key data resources for relevant information. (B) GWAS studies or traits associated with the gene from the Locus-to-Gene analysis pipeline. (C) GWAS studies or traits associated with molecular quantitative trait loci for the gene, based on colocalization analysis evidence. Abbreviations: GWAS; Genome-wide association study, QTLs; quantitative trait loci, L2G; locus-to-gene.
LLM interpretation
This figure is a multi-panel screenshot of a "Gene page" interface for the gene *ITGA4*. Panel A shows a gene overview with links to external data resources, while Panel B displays a table of GWAS studies associated with the gene via a Locus-to-Gene (L2G) pipeline, including L2G scores ranging from 0 to 1. Panel C presents a table of GWAS studies associated with molecular quantitative trait loci (QTLs) based on colocalization evidence, including H3 and H4 probability values.
Study-locus page. An example of the gene prioritisation page for the lead variant 2_181443625_A_G and the inflammatory bowel disease GWAS24. Gene prioritisation results from (A) the locus-to-gene analysis pipeline and (B) colocalisation analysis. (C) A heatmap view of genes that colocalise at this locus. (D) GWAS study colocalisation. (E) Credible set overlap. Abbreviations: GWAS; Genome-wide association study, IBD; inflammatory bowel disease, L2G; locus-to-gene, OR; odds ratio, QTLs; quantitative trait loci.
LLM interpretation
This figure is a multi-panel screenshot of a gene prioritization web page for a specific lead variant associated with inflammatory bowel disease. It includes a data table for locus-to-gene analysis (A), a colocalization table (B), a heatmap of colocalizing genes (C), a table of GWAS study colocalization (D), and a genomic track visualization showing credible set overlap (E). The panels collectively display gene scores, p-values, odds ratios, and the spatial distribution of variants across different genomic tracks.
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| Integrative Gene-Centric Analysis Reveals Cellular Pathways Associated with Heritable Breast Cancer Predisposition. | Zucker R et al. | β | 2025 | β |
| JOB: Japan Omics Browser provides integrative visualization of multi-omics data. | Takahashi Y et al. | β | 2025 | β |
| Large-scale brainstem neuroimaging and genetic analyses provide new insights into the neuronal mechanisms of hypertension. | Gurholt TP et al. | β | 2025 | β |
| Large-scale genome-wide analyses of stuttering. | Polikowsky HG et al. | β | 2025 | β |
| Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking. | He W et al. | β | 2025 | β |
| Large-scale multi-omics analyses in Hispanic/Latino populations identify genes for cardiometabolic traits. | Petty LE et al. | β | 2025 | β |
| <i>FST</i> Polymorphisms Associate with Musculoskeletal Traits and Modulate Exercise Response Differentially by Sex and Modality in Northern Han Chinese Adults. | Cao W et al. | β | 2025 | β |
| Machine learning derived retinal pigment score from ophthalmic imaging shows ethnicity is not biology. | Rajesh AE et al. | β | 2025 | β |
| Mapping atherogenesis mechanisms in smooth muscle cells by targeting genes linked to coronary artery disease. | AlbarrΓ‘n-JuΓ‘rez J et al. | β | 2025 | β |
| Mapping Inherited Genetic Variation with Opposite Effects on Autoimmune Disease and Four Cancer Types Identifies Candidate Drug Targets Associated with the Anti-Tumor Immune Response. | Chen J et al. | β | 2025 | β |
| Mendelian randomization of immune cell phenotypes to discover potential drug targets for B-cell malignancy. | Beer SA et al. | β | 2025 | β |
| Multi-ancestry genome-wide association analyses of polycystic ovary syndrome. | Zhao H et al. | β | 2025 | β |
| Multi-ancestry meta-analysis identifies genetic modifiers of age-at-onset of Alzheimer's disease at known and novel loci. | Blue EE et al. | β | 2025 | β |
| Neutrophils restricted contribution of <i>CCRL2</i> genetic variants to COVID-19 severity. | Laffranchi M et al. | β | 2025 | β |
| Novel Genetic Loci for Nontuberculous Mycobacterial Pulmonary Disease and Potential Protective Effect of Body Mass Index. | Park K et al. | β | 2025 | β |
| Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery. | Buniello A et al. | β | 2025 | β |
| Oxygen-induced stress reveals context-specific gene regulatory effects in human brain organoids. | Umans BD et al. | β | 2025 | β |
| Polygenic overlap with granulocyte counts identifies novel loci for clozapine metabolism and clozapine-induced agranulocytosis. | Koch E et al. | β | 2025 | β |
| Polygenic prediction of cellular immune responses to mumps vaccine. | Coombes BJ et al. | β | 2025 | β |
| Proteome-wide mendelian randomization reveals circulating proteins causally associated with childhood body mass index. | Avocegamou R et al. | β | 2025 | β |
| Rethinking GWAS: how lessons from genetic screens and artificial intelligence could reveal biological mechanisms. | Hazelett DJ | β | 2025 | β |
| Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk. | Choi SH et al. | β | 2025 | β |
| Shared genetic architecture of posttraumatic stress disorder with cardiovascular imaging, risk, and diagnoses. | Shen J et al. | β | 2025 | β |
| Shared polygenic susceptibility to treatment response in severe affective and psychotic disorders: Evidence from GWAS data sets. | Facal F et al. | β | 2025 | β |
| Single-cell ultra-high-throughput multiplexed chromatin and RNA profiling reveals gene regulatory dynamics. | Lobato-Moreno S et al. | β | 2025 | β |
| SLC45A4 is a pain gene encoding a neuronal polyamine transporter. | Middleton SJ et al. | β | 2025 | β |
| Sparse matrix factorization robust to sample sharing across GWASs reveals interpretable genetic components. | Omdahl AR et al. | β | 2025 | β |
| Systematic review and independent validation of genetic factors of radiographic outcome in rheumatoid arthritis identifies a genome-wide association with CARD9. | Sharma SD et al. | β | 2025 | β |
| Targeting lysozyme 2 in endocardium promotes rapid recovery by modulating remote injury signals. | Fan C et al. | β | 2025 | β |
| The genetic overlap between major depressive disorder, white blood cell counts and interleukin 6. | WistrΓΆm ED et al. | β | 2025 | β |
| The impact of common and rare genetic variants on bradyarrhythmia development. | Weng LC et al. | β | 2025 | β |
| The Length of Haplotype Blocks and Signals of Structural Variation in Reconstructed Genealogies. | Ignatieva A et al. | β | 2025 | β |
| The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity. | Cerezo M et al. | β | 2025 | β |
| The Pleiotropic Effect of ANRIL in Glaucoma and Cardiovascular Disease. | O'Brien L et al. | β | 2025 | β |
| The rapid growth in Mendelian randomization studies. | Hemani G et al. | β | 2025 | β |
| The retrotransposon-derived capsid genes PNMA1 and PNMA4 maintain reproductive capacity. | Wood TWP et al. | β | 2025 | β |
| TICTAC: target illumination clinical trial analytics with cheminformatics. | Abok JI et al. | β | 2025 | β |
| Trans-ethnic GWAS meta-analysis of idiopathic spermatogenic failure highlights the immune-mediated nature of Sertoli cell-only syndrome. | GonzΓ‘lez-MuΓ±oz S et al. | β | 2025 | β |
| Uncovering methylation-dependent genetic effects on regulatory element function in diverse genomes. | Petersen RM et al. | β | 2025 | β |
| Unveiling functional module associated with fungal disease stress in barley (<i>Hordeum vulgare</i>). | Panahi B et al. | β | 2025 | β |
| Unveiling the clinical and genetic impact of neuropsychiatric involvement in systemic lupus erythematosus. | Cha S et al. | β | 2025 | β |
| Update on the genetics of allergic diseases. | Lawson LP et al. | β | 2025 | β |
| Uromodulin and Risk of Upper Urinary Tract Infections: A Mendelian Randomization Study. | Liyanarachi KV et al. | β | 2025 | β |
| Using genetics, genomics, and transcriptomics to identify therapeutic targets in juvenile idiopathic arthritis. | Tarbell E et al. | β | 2025 | β |
| Using omics data and genome editing methods to decipher GWAS loci associated with coronary artery disease. | Chignon A et al. | β | 2025 | β |
| Utilising genomic association data for causal inference in anorexia nervosa. | Adams DM et al. | β | 2025 | β |
| Variant-to-function approaches for adipose tissue: Insights into cardiometabolic disorders. | Metz S et al. | β | 2025 | β |
| Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity. | Heng TH et al. | β | 2025 | β |
| A cross-disease, pleiotropy-driven approach for therapeutic target prioritization and evaluation. | Bao C et al. | β | 2024 | β |
| A foundation model for clinician-centered drug repurposing. | Huang K et al. | β | 2024 | β |
| A Genome-Wide Association Study Suggests New Susceptibility Loci for Primary Antiphospholipid Syndrome. | Casares-Marfil D et al. | β | 2024 | β |
| Aging-related defects in macrophage function are driven by MYC and USF1 transcriptional programs. | Moss CE et al. | β | 2024 | β |
| An eQTL-based approach reveals candidate regulators of LINE-1 RNA levels in lymphoblastoid cells. | Bravo JI et al. | β | 2024 | β |
| Association between circulating inflammatory markers and adult cancer risk: a Mendelian randomization analysis. | Yarmolinsky J et al. | β | 2024 | β |
| Associations between antagonistic SNPs for neuropsychiatric disorders and human brain structure. | Federmann LM et al. | β | 2024 | β |
| A systematic exploration of unexploited genes for oxidative stress in Parkinson's disease. | Suzuki T et al. | β | 2024 | β |
| Atrial fibrillation variant-to-gene prioritization through cross-ancestry eQTL and single-nucleus multiomic analyses. | Leblanc FJA et al. | β | 2024 | β |
| Bipolar patients display stoichiometric imbalance of gene expression in post-mortem brain samples. | Holmgren A et al. | β | 2024 | β |
| Cell type and dynamic state govern genetic regulation of gene expression in heterogeneous differentiating cultures. | Popp JM et al. | β | 2024 | β |
| Changes in environmental exposures over decades may influence the genetic architecture of severe spermatogenic failure. | CervΓ‘n-MartΓn M et al. | β | 2024 | β |
| Characterizing Common and Rare Variations in Nontraditional Glycemic Biomarkers Using Multivariate Approaches on Multiancestry ARIC Study. | Ray D et al. | β | 2024 | β |
| Charting the shared genetic architecture of Alzheimer's disease, cognition, and educational attainment, and associations with brain development. | Jaholkowski P et al. | β | 2024 | β |
| COLOCdb: a comprehensive resource for multi-model colocalization of complex traits. | Pan S et al. | β | 2024 | β |
| Convergence of coronary artery disease genes onto endothelial cell programs. | Schnitzler GR et al. | β | 2024 | β |
| CoPheScan: phenome-wide association studies accounting for linkage disequilibrium. | Manipur I et al. | β | 2024 | β |
| Coronary Artery Disease Risk Variant Dampens the Expression of CALCRL by Reducing HSF Binding to Shear Stress Responsive Enhancer in Endothelial Cells In Vitro. | Selvarajan I et al. | β | 2024 | β |
| Deciphering the impact of genomic variation on function. | IGVF Consortium | β | 2024 | β |
| DGRPool, a web tool leveraging harmonized <i>Drosophila</i> Genetic Reference Panel phenotyping data for the study of complex traits. | Gardeux V et al. | β | 2024 | β |
| Discovery of Carbonic Anhydrase 9 as a Novel CLEC2 Ligand in a Cellular Interactome Screen. | Hoffmann S et al. | β | 2024 | β |
| Disease coverage of human genome-wide association studies and pharmaceutical research and development. | Gordillo-MaraΓ±Γ³n M et al. | β | 2024 | β |
| Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. | Verma A et al. | β | 2024 | β |
| eQTLs identify regulatory networks and drivers of variation in the individual response to sepsis. | Burnham KL et al. | β | 2024 | β |
| Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease. | Petrazzini BO et al. | β | 2024 | β |
| Exploiting meta-analysis of genome-wide interaction with serum 25-hydroxyvitamin D to identify novel genetic loci associated with pulmonary function. | Seo J et al. | β | 2024 | β |
| Exploring potential causal genetic variants and genes for endometrial cancer: Open Targets Genetics, Mendelian randomization, and multi-tissue transcriptome-wide association analysis. | Zhang G et al. | β | 2024 | β |
| Expression quantitative trait loci influence DNA damage-induced apoptosis in cancer. | Bigge J et al. | β | 2024 | β |
| From GWASs toward Mechanistic Understanding with Case Studies in Dermatogenetics. | Shen S et al. | β | 2024 | β |
| Gene-environment interactions in the influence of maternal education on adolescent neurodevelopment using ABCD study. | Shi R et al. | β | 2024 | β |
| Genetic and multi-omic risk assessment of Alzheimer's disease implicates core associated biological domains. | Cary GA et al. | β | 2024 | β |
| Genetic and transcriptomic landscape of colonic diverticulosis. | Seo J et al. | β | 2024 | β |
| Genetic Correlations between Migraine and Carpal Tunnel Syndrome. | Wiberg A et al. | β | 2024 | β |
| Genetic determinants and phenotypic consequences of blood T-cell proportions in 207,000 diverse individuals. | Poisner H et al. | β | 2024 | β |
| Genetic determinants of micronucleus formation in vivo. | Adams DJ et al. | β | 2024 | β |
| Genetic factors associated with reasons for clinical trial stoppage. | Razuvayevskaya O et al. | β | 2024 | β |
| Genetic influences on circulating retinol and its relationship to human health. | Reay WR et al. | β | 2024 | β |
| Genetic legacy of ancient hunter-gatherer Jomon in Japanese populations. | Yamamoto K et al. | β | 2024 | β |
| Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism. | SolΓ©-Navais P et al. | β | 2024 | β |
| Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy. | Zheng SL et al. | β | 2024 | β |
| Genome-Wide Interaction Analyses of Serum Calcium on Ventricular Repolarization Time in 125β393 Participants. | Young WJ et al. | β | 2024 | β |
| Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction. | Braun A et al. | β | 2024 | β |
| Genomic imputation of ancient Asian populations contrasts local adaptation in pre- and post-agricultural Japan. | Cooke NP et al. | β | 2024 | β |
| Human genetic associations of the airway microbiome in chronic obstructive pulmonary disease. | Gao J et al. | β | 2024 | β |
| Human Genetics and Genomics for Drug Target Identification and Prioritization: Open Targets' Perspective. | McDonagh EM et al. | β | 2024 | β |
| <i>ABCB1 C1236T</i>, <i>G2677TA</i> and <i>C3435T</i> Genetic Polymorphisms and Antidepressant Response Phenotypes: Results from a Portuguese Major Depressive Disorder Cohort. | Santos M et al. | β | 2024 | β |
| Identification of regulatory networks and crosstalk factors in brown adipose tissue and liver of a cold-exposed cardiometabolic mouse model. | Amor M et al. | β | 2024 | β |
| Identification of shared genetic etiology of cardiovascular and cerebrovascular diseases through common cardiometabolic risk factors. | Ding K et al. | β | 2024 | β |
| Identification of the VLDLR locus associated with giant cell arteritis and the possible causal role of low-density lipoprotein cholesterol in its pathogenesis. | Iwasaki T et al. | β | 2024 | β |
| Identifying genetic variants associated with chromatin looping and genome function. | Bhattacharyya S et al. | β | 2024 | β |
| Impact of genome build on RNA-seq interpretation and diagnostics. | Ungar RA et al. | β | 2024 | β |
| In-silico functional analyses identify TMPRSS15-mediated intestinal absorption of lithium as a modulator of lithium response in bipolar disorder. | Stacey D et al. | β | 2024 | β |
| Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma. | Hamel AR et al. | β | 2024 | β |
| Investigation of genetic determinants of cognitive change in later life. | Mahedy L et al. | β | 2024 | β |
| Kidney Volume and Risk of Incident Kidney Outcomes. | Wu J et al. | β | 2024 | β |
| Leveraging electronic health records and knowledge networks for Alzheimer's disease prediction and sex-specific biological insights. | Tang AS et al. | β | 2024 | β |
| Leveraging large-scale multi-omics evidences to identify therapeutic targets from genome-wide association studies. | Lessard S et al. | β | 2024 | β |
| Leveraging Mendelian randomization to inform drug discovery and development for ischemic stroke. | Daghlas I et al. | β | 2024 | β |
| Leveraging pleiotropy identifies common-variant associations with selective IgA deficiency. | Willis TW et al. | β | 2024 | β |
| Mendelian randomization analysis using GWAS and eQTL data to investigate the relationship between chronotype and neuropsychiatric disorders and their molecular basis. | Crinion S et al. | β | 2024 | β |
| m<sup>6</sup>A Methylated Long Noncoding RNA LOC339803 Regulates Intestinal Inflammatory Response. | Olazagoitia-Garmendia A et al. | β | 2024 | β |
| NK2R control of energy expenditure and feeding to treat metabolic diseases. | Sass F et al. | β | 2024 | β |
| Novel genetic markers for chronic kidney disease in a geographically isolated population of Indigenous Australians: Individual and multiple phenotype genome-wide association study. | Arunachalam V et al. | β | 2024 | β |
| Novel insights into the pleiotropic health effects of growth differentiation factor 11 gained from genome-wide association studies in population biobanks. | Strosahl J et al. | β | 2024 | β |
| Novel risk loci for COVID-19 hospitalization among admixed American populations. | Diz-de Almeida S et al. | β | 2024 | β |
| Partitioned polygenic risk scores identify distinct types of metabolic dysfunction-associated steatotic liver disease. | Jamialahmadi O et al. | β | 2024 | β |
| Phenome-wide association study of population-differentiating genetic variants around gene <i>ACSL1</i>. | Yang S et al. | β | 2024 | β |
| Phenotype wide association study links bronchopulmonary dysplasia with eosinophilia in children. | Kelchtermans J et al. | β | 2024 | β |
| PigBiobank: a valuable resource for understanding genetic and biological mechanisms of diverse complex traits in pigs. | Zeng H et al. | β | 2024 | β |
| Polymorphism Pro64His within galectin-3 has functional consequences at proteome level in thyroid cells. | Silvestri R et al. | β | 2024 | β |
| Population-specific putative causal variants shape quantitative traits. | Koyama S et al. | β | 2024 | β |
| Proteomic insights into modifiable risk of venous thromboembolism and cardiovascular comorbidities. | Yuan S et al. | β | 2024 | β |
| QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction. | Maharaj AV et al. | β | 2024 | β |
| Regulatory elements in <i>SEM1-DLX5-DLX6</i> (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits. | Nicoletti P et al. | β | 2024 | β |
| Replication study identified EFEMP1 association with varicose vein predisposition among Indians. | Mehra R et al. | β | 2024 | β |
| Rhinovirus infection of airway epithelial cells uncovers the non-ciliated subset as a likely driver of genetic risk to childhood-onset asthma. | Djeddi S et al. | β | 2024 | β |
| Risk Variants Associated With Normal Pressure Hydrocephalus: Genome-Wide Association Study in the FinnGen Cohort. | RΓ€sΓ€nen J et al. | β | 2024 | β |
| Sex-Stratified Genome-Wide Association Study in the Spanish Population Identifies a Novel Locus for Lacunar Stroke. | CΓ‘rcel-MΓ‘rquez J et al. | β | 2024 | β |
| Shared genetics between breast cancer and predisposing diseases identifies novel breast cancer treatment candidates. | Lalagkas PN et al. | β | 2024 | β |
| Single-cell multi-ome regression models identify functional and disease-associated enhancers and enable chromatin potential analysis. | Mitra S et al. | β | 2024 | β |
| Socio-demographic and genetic risk factors for drug adherence and persistence across 5 common medication classes. | Cordioli M et al. | β | 2024 | β |
| Systematic discovery of gene-environment interactions underlying the human plasma proteome in UK Biobank. | Hillary RF et al. | β | 2024 | β |
| TargetGene: a comprehensive database of cell-type-specific target genes for genetic variants. | Lin S et al. | β | 2024 | β |
| Targeting postsynaptic glutamate receptor scaffolding proteins PSD-95 and PICK1 for obesity treatment. | Fadahunsi N et al. | β | 2024 | β |
| The 330 risk loci known for systemic lupus erythematosus (SLE): a review. | Laurynenka V et al. | β | 2024 | β |
| The genome-wide association study of serum IgE levels demonstrated a shared genetic background in allergic diseases. | Lu HF et al. | β | 2024 | β |
| The Immunometabolic Gene N-Acetylglucosamine Kinase Is Uniquely Involved in the Heritability of Multiple Sclerosis Severity. | Nataf S et al. | β | 2024 | β |
| The landscape of the methodology in drug repurposing using human genomic data: a systematic review. | Wang L et al. | β | 2024 | β |
| The PTK2B gene is associated with obesity, adiposity, and leptin levels in children and adolescents. | Prida E et al. | β | 2024 | β |
| The role of longevity-related genetic variant interactions as predictors of survival after 85 years of age. | Ε etinc M et al. | β | 2024 | β |
| The value of genetic data from 665,460 individuals in managing iron deficiency anaemia and suitability to donate blood. | Toivonen J et al. | β | 2024 | β |
| Tissue-specific genetic variation suggests distinct molecular pathways between body shape phenotypes and colorectal cancer. | Peruchet-Noray L et al. | β | 2024 | β |
| Translation of genome-wide association study: from genomic signals to biological insights. | Bruner WS et al. | β | 2024 | β |
| Unraveling druggable cancer-driving proteins and targeted drugs using artificial intelligence and multi-omics analyses. | LΓ³pez-CortΓ©s A et al. | β | 2024 | β |
| Unveiling new genetic insights in rheumatoid arthritis for drug discovery through Taxonomy3 analysis. | Kozlowska J et al. | β | 2024 | β |
| Admixture mapping of severe asthma exacerbations in Hispanic/Latino children and youth. | Herrera-Luis E et al. | β | 2023 | β |
| A functional genomics approach reveals suggestive quantitative trait loci associated with combined TLR4 and BCP crystal-induced inflammation and osteoarthritis. | KlΓΌck V et al. | β | 2023 | β |
| Alternative splicing in lung influences COVID-19 severity and respiratory diseases. | Nakanishi T et al. | β | 2023 | β |
| An Update on the Genetics of IgA Nephropathy. | Xu LL et al. | β | 2023 | β |
| A rare human variant that disrupts GPR10 signalling causes weight gain in mice. | Talbot F et al. | β | 2023 | β |
| A review of genetic risk in systemic lupus erythematosus. | Guga S et al. | β | 2023 | β |
| A scan of all coding region variants of the human genome, identifies 13q12.2-rs9579139 and 15q24.1-rs2277598 as novel risk loci for pancreatic ductal adenocarcinoma. | Giaccherini M et al. | β | 2023 | β |
| Asthma Exacerbations: The Genes Behind the Scenes. | Herrera-Luis E et al. | β | 2023 | β |
| Clinical trait-specific genetic analysis in BehΓ§et's disease identifies novel loci associated with ocular and neurological involvement. | Casares-Marfil D et al. | β | 2023 | β |
| Combination of meta-analysis of QTL and GWAS to uncover the genetic architecture of seed yield and seed yield components in common bean. | Izquierdo P et al. | β | 2023 | β |
| Comprehensive epigenomic profiling reveals the extent of disease-specific chromatin states and informs target discovery in ankylosing spondylitis. | Brown AC et al. | β | 2023 | β |
| Cross-trait genome-wide association analysis of C-reactive protein level and psychiatric disorders. | Hindley G et al. | β | 2023 | β |
| Cystatin C is glucocorticoid responsive, directs recruitment of Trem2+ macrophages, and predicts failure of cancer immunotherapy. | Kleeman SO et al. | β | 2023 | β |
| DeepPheWAS: an R package for phenotype generation and association analysis for phenome-wide association studies. | Packer RJ et al. | β | 2023 | β |
| Disentangling the genetic overlap and causal relationships between primary open-angle glaucoma, brain morphology and four major neurodegenerative disorders. | Diaz-Torres S et al. | β | 2023 | β |
| DNA methylation QTL mapping across diverse human tissues provides molecular links between genetic variation and complex traits. | Oliva M et al. | β | 2023 | β |
| Effect of all-but-one conditional analysis for eQTL isolation in peripheral blood. | Brown M et al. | β | 2023 | β |
| EMBL's European Bioinformatics Institute (EMBL-EBI) in 2022. | Thakur M et al. | β | 2023 | β |
| European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation. | Budu-Aggrey A et al. | β | 2023 | β |
| Exploring the genetic basis of coronary artery disease using functional genomics. | LΓ³pez RodrΓguez M et al. | β | 2023 | β |
| FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies. | Hecker J et al. | β | 2023 | β |
| Gene-based association study reveals a distinct female genetic signal in primary hypertension. | Zucker R et al. | β | 2023 | β |
| Gene, cell type, and drug prioritization analysis suggest genetic basis for the utility of diuretics in treating Alzheimer disease. | Pinakhina D et al. | β | 2023 | β |
| Gene-metabolite annotation with shortest reactional distance enhances metabolite genome-wide association studies results. | Baron C et al. | β | 2023 | β |
| Genetic and Gene Expression Resources for Osteoporosis and Bone Biology Research. | Kaya S et al. | β | 2023 | β |
| Genetic variants in RNA m<sup>5</sup> C modification genes associated with survival and chemotherapy efficacy of colorectal cancer. | Chen S et al. | β | 2023 | β |
| Genetic Variants in Telomerase Reverse Transcriptase Contribute to Solar Lentigines. | Peng Q et al. | β | 2023 | β |
| Genome-based scores predict thousands of molecular traits in humans. | β | β | 2023 | β |
| Genome-wide analyses reveal novel opioid use disorder loci and genetic overlap with schizophrenia, bipolar disorder, and major depression. | Holen B et al. | β | 2023 | β |
| Genome-wide association meta-analysis of knee and hip osteoarthritis uncovers genetic differences between patients treated with joint replacement and patients without joint replacement. | Henkel C et al. | β | 2023 | β |
| Genome-wide association study in 404,302 individuals identifies 7 significant loci for reaction time variability. | Wootton O et al. | β | 2023 | β |
| Genome-wide association study of chronic sputum production implicates loci involved in mucus production and infection. | Packer RJ et al. | β | 2023 | β |
| Genome-wide census of ATF4 binding sites and functional profiling of trait-associated genetic variants overlapping ATF4 binding motifs. | Γrd T et al. | β | 2023 | β |
| GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology. | Marongiu M et al. | β | 2023 | β |
| Identification of the shared genetic architecture underlying seven autoimmune diseases with GWAS summary statistics. | Wang Y et al. | β | 2023 | β |
| Identifying genetic loci that are associated with changes in gene expression in PTSD in a South African cohort. | Swart PC et al. | β | 2023 | β |
| Integrative GWAS and co-localisation analysis suggests novel genes associated with age-related multimorbidity. | West CE et al. | β | 2023 | β |
| Investigation of common genetic risk factors between thyroid traits and breast cancer. | Lucotte EA et al. | β | 2023 | β |
| KidneyGPS: a user-friendly web application to help prioritize kidney function genes and variants based on evidence from genome-wide association studies. | Stanzick KJ et al. | β | 2023 | β |
| Large-scale exome sequence analysis identifies sex- and age-specific determinants of obesity. | Kaisinger LR et al. | β | 2023 | β |
| Loci for insulin processing and secretion provide insight into type 2 diabetes risk. | Broadaway KA et al. | β | 2023 | β |
| Locus for severity implicates CNS resilience in progression of multiple sclerosis. | International Multiple Sclerosis Genetics Consortium et al. | β | 2023 | β |
| Longitudinal lung function and gas transfer in individuals with idiopathic pulmonary fibrosis: a genome-wide association study. | Allen RJ et al. | β | 2023 | β |
| Long Non-Coding RNAs and Their "Discrete" Contribution to IBD and Johne's Disease-What Stands out in the Current Picture? A Comprehensive Review. | Triantaphyllopoulos KA | β | 2023 | β |
| Machine Learning to Advance Human Genome-Wide Association Studies. | Sigala RE et al. | β | 2023 | β |
| Mendelian randomization and colocalization analyses reveal an association between short sleep duration or morning chronotype and altered leukocyte telomere length. | Hu J et al. | β | 2023 | β |
| Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus. | Khunsriraksakul C et al. | β | 2023 | β |
| Multi-Omics Studies in Historically Excluded Populations: The Road to Equity. | Yang G et al. | β | 2023 | β |
| Multiplatform-Integrated Identification of Melatonin Targets for a Triad of Psychosocial-Sleep/Circadian-Cardiometabolic Disorders. | Campos LA et al. | β | 2023 | β |
| Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome. | Barry A et al. | β | 2023 | β |
| Nationwide health, socio-economic and genetic predictors of COVID-19 vaccination status in Finland. | Hartonen T et al. | β | 2023 | β |
| otargen: GraphQL-based R package for tidy data accessing and processing from Open Targets Genetics. | Feizi A et al. | β | 2023 | β |
| Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis. | Sato G et al. | β | 2023 | β |
| Pervasive Sharing of Causal Genetic Risk Factors Contributes to Clinical and Molecular Overlap between SjΓΆgren's Disease and Systemic Lupus Erythematosus. | Chau K et al. | β | 2023 | β |
| Polygenic overlap with body-mass index improves prediction of treatment-resistant schizophrenia. | O'Connell KS et al. | β | 2023 | β |
| Polygenic prediction of preeclampsia and gestational hypertension. | Honigberg MC et al. | β | 2023 | β |
| Predicting ExWAS findings from GWAS data: a shorter path to causal genes. | Liang KYH et al. | β | 2023 | β |
| Priority index for asthma (PIA): In silico discovery of shared and distinct drug targets for adult- and childhood-onset disease. | Bao C et al. | β | 2023 | β |
| Screening for functional regulatory variants in open chromatin using GenIE-ATAC. | Cooper S et al. | β | 2023 | β |
| SEM1 promotes tumor progression of glioblastoma via activating the akt signaling pathway. | Li C et al. | β | 2023 | β |
| Sex-specific association of SELL gene polymorphisms with pattern hair loss in the Thai population: A candidate gene association study and in silico functional characterization. | Khantham C et al. | β | 2023 | β |
| Shared genetic loci between Alzheimer's disease and multiple sclerosis: Crossroads between neurodegeneration and immune system. | Fominykh V et al. | β | 2023 | β |
| Single-cell analyses and host genetics highlight the role of innate immune cells in COVID-19 severity. | Edahiro R et al. | β | 2023 | β |
| Single-cell meta-analysis of inflammatory bowel disease with scIBD. | Nie H et al. | β | 2023 | β |
| Speos: an ensemble graph representation learning framework to predict core gene candidates for complex diseases. | Ratajczak F et al. | β | 2023 | β |
| Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation. | Currant H et al. | β | 2023 | β |
| The next-generation Open Targets Platform: reimagined, redesigned, rebuilt. | Ochoa D et al. | β | 2023 | β |
| The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource. | Sollis E et al. | β | 2023 | β |
| Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics. | Cook TW et al. | β | 2023 | β |
| Unraveling the relationships between alpha- and beta-adrenergic modulation and the risk of heart failure. | Baudier C et al. | β | 2023 | β |
| Xanthine oxidoreductase gene polymorphisms are associated with high risk of sepsis and organ failure. | Gao L et al. | β | 2023 | β |
| A Genome-Wide Association Study of 2304 Extreme Longevity Cases Identifies Novel Longevity Variants. | Bae H et al. | β | 2022 | β |
| A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma. | Seviiri M et al. | β | 2022 | β |
| An explainable model of host genetic interactions linked to COVID-19 severity. | Onoja A et al. | β | 2022 | β |
| Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging. | He W et al. | β | 2022 | β |
| Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding. | Mark PR et al. | β | 2022 | β |
| Benchmarking post-GWAS analysis tools in major depression: Challenges and implications. | PΓ©rez-Granado J et al. | β | 2022 | β |
| Causality of anthropometric markers associated with polycystic ovarian syndrome: Findings of a Mendelian randomization study. | De Silva K et al. | β | 2022 | β |
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| Clotting factor genes are associated with preeclampsia in high-altitude pregnant women in the Peruvian Andes. | Nieves-ColΓ³n MA et al. | β | 2022 | β |
| Damaging missense variants in <i>IGF1R</i> implicate a role for IGF-1 resistance in the etiology of type 2 diabetes. | Gardner EJ et al. | β | 2022 | β |
| Disentangling Signatures of Selection Before and After European Colonization in Latin Americans. | Mendoza-Revilla J et al. | β | 2022 | β |
| Distinct transcriptome architectures underlying lupus establishment and exacerbation. | Nakano M et al. | β | 2022 | β |
| ExPheWas: a platform for cis-Mendelian randomization and gene-based association scans. | Legault MA et al. | β | 2022 | β |
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| Functional Genomics Analysis to Disentangle the Role of Genetic Variants in Major Depression. | PΓ©rez-Granado J et al. | β | 2022 | β |
| Genetically regulated multi-omics study for symptom clusters of posttraumatic stress disorder highlights pleiotropy with hematologic and cardio-metabolic traits. | Pathak GA et al. | β | 2022 | β |
| Genetic and environmental determinants of diastolic heart function. | Thanaj M et al. | β | 2022 | β |
| Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis. | Kar SP et al. | β | 2022 | β |
| Genome-Wide Analysis of Human Long Noncoding RNAs: A Provocative Review. | Ponting CP et al. | β | 2022 | β |
| Genome-wide association analysis and replication in 810,625 individuals with varicose veins. | Ahmed WU et al. | β | 2022 | β |
| Genome-Wide Association Analysis of Over 170,000 Individuals from the UK Biobank Identifies Seven Loci Associated with Dietary Approaches to Stop Hypertension (DASH) Diet. | Mompeo O et al. | β | 2022 | β |
| Genome-Wide Association Study of Adhesive Capsulitis Suggests Significant Genetic Risk Factors. | Kulm S et al. | β | 2022 | β |
| Genome-wide gene-air pollution interaction analysis of lung function in 300,000 individuals. | Melbourne CA et al. | β | 2022 | β |
| Genomic Evidence Supports the Recognition of Endometriosis as an Inflammatory Systemic Disease and Reveals Disease-Specific Therapeutic Potentials of Targeting Neutrophil Degranulation. | Bao C et al. | β | 2022 | β |
| <i>ANXA11</i> rs1049550 Associates with LΓΆfgren's Syndrome and Chronic Sarcoidosis Patients. | Karakaya B et al. | β | 2022 | β |
| Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility. | CervΓ‘n-MartΓn M et al. | β | 2022 | β |
| Integrated analysis of the clinical consequence and associated gene expression of <i>ALK</i> in <i>ALK</i>-positive human cancers. | Saifullah et al. | β | 2022 | β |
| Integrating single-cell sequencing data with GWAS summary statistics reveals CD16+monocytes and memory CD8+T cells involved in severe COVID-19. | Ma Y et al. | β | 2022 | β |
| Integrative analysis of metabolite GWAS illuminates the molecular basis of pleiotropy and genetic correlation. | Smith CJ et al. | β | 2022 | β |
| Investigating the potential impact of PCSK9-inhibitors on mood disorders using eQTL-based Mendelian randomization. | Aman A et al. | β | 2022 | β |
| Leveraging global multi-ancestry meta-analysis in the study of idiopathic pulmonary fibrosis genetics. | Partanen JJ et al. | β | 2022 | β |
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| mGWAS-Explorer: Linking SNPs, Genes, Metabolites, and Diseases for Functional Insights. | Chang L et al. | β | 2022 | β |
| MicroRNA-7 regulates melanocortin circuits involved in mammalian energy homeostasis. | LaPierre MP et al. | β | 2022 | β |
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| Multi-trait and cross-population genome-wide association studies across autoimmune and allergic diseases identify shared and distinct genetic component. | Shirai Y et al. | β | 2022 | β |
| Multi-trait genome-wide association study of opioid addiction: OPRM1 and beyond. | Gaddis N et al. | β | 2022 | β |
| Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity. | Gilchrist JJ et al. | β | 2022 | β |
| Network analysis of genome-wide association studies for drug target prioritisation. | Barrio-Hernandez I et al. | β | 2022 | β |
| Obesity-related biomarkers underlie a shared genetic architecture between childhood body mass index and childhood asthma. | Han X et al. | β | 2022 | β |
| Pharmacogenomic study of heart failure and candesartan response from the CHARM programme. | DubΓ© MP et al. | β | 2022 | β |
| PiER: web-based facilities tailored for genetic target prioritisation harnessing human disease genetics, functional genomics and protein interactions. | Fang H | β | 2022 | β |
| Polygenic autoimmune disease risk alleles impacting B cell tolerance act in concert across shared molecular networks in mouse and in humans. | Harley ITW et al. | β | 2022 | β |
| Population-based genetic effects for developmental stuttering. | Polikowsky HG et al. | β | 2022 | β |
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| Reply to Zhu etΒ al.: Implications of <i>CHRNB1</i> and <i>ERBB2</i> in the pathobiology of myasthenia gravis. | Chia R et al. | β | 2022 | β |
| Scalable approaches for functional analyses of whole-genome sequencing non-coding variants. | Kuksa PP et al. | β | 2022 | β |
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| Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function. | Eraslan G et al. | β | 2022 | β |
| SMetABF: A rapid algorithm for Bayesian GWAS meta-analysis with a large number of studies included. | Sun J et al. | β | 2022 | β |
| StarGazer: A Hybrid Intelligence Platform for Drug Target Prioritization and Digital Drug Repositioning Using Streamlit. | Lee C et al. | β | 2022 | β |
| The complex, dynamic SpliceOme of the small GTPase transcripts altered by technique, sex, genetics, tissue specificity, and RNA base editing. | Das AS et al. | β | 2022 | β |
| The genetic architecture of pneumonia susceptibility implicates mucin biology and a relationship with psychiatric illness. | Reay WR et al. | β | 2022 | β |
| The genomic signatures of natural selection in admixed human populations. | Cuadros-Espinoza S et al. | β | 2022 | β |
| The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases. | Alsheikh AJ et al. | β | 2022 | β |
| The sequences of 150,119 genomes in the UK Biobank. | Halldorsson BV et al. | β | 2022 | β |
| Transcriptome-wide association study in UK Biobank Europeans identifies associations with blood cell traits. | Rowland B et al. | β | 2022 | β |
| Uncovering the gene regulatory network of type 2 diabetes through multi-omic data integration. | Liu J et al. | β | 2022 | β |
| What makes a good prediction? Feature importance and beginning to open the black box of machine learning in genetics. | Musolf AM et al. | β | 2022 | β |
| A compendium of uniformly processed human gene expression and splicing quantitative trait loci. | Kerimov N et al. | β | 2021 | β |
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| Association of Novel Locus With Rheumatic Heart Disease in Black African Individuals: Findings From the RHDGen Study. | Machipisa T et al. | β | 2021 | β |
| CCR5 and Biological Complexity: The Need for Data Integration and Educational Materials to Address Genetic/Biological Reductionism at the Interface of Ethical, Legal, and Social Implications. | Bauss J et al. | β | 2021 | β |
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| Genome-wide association study of susceptibility to hospitalised respiratory infections. | Williams AT et al. | β | 2021 | β |
| HIF-1Ξ± Pulmonary Phenotype Wide Association Study Unveils a Link to Inflammatory Airway Conditions. | Kelchtermans J et al. | β | 2021 | β |
| Identification of Recessively Inherited Genetic Variants Potentially Linked to Pancreatic Cancer Risk. | Lu Y et al. | β | 2021 | β |
| Immunotherapy-Mediated Thyroid Dysfunction: Genetic Risk and Impact on Outcomes with PD-1 Blockade in Non-Small Cell Lung Cancer. | Luo J et al. | β | 2021 | β |
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| Open Targets Platform: supporting systematic drug-target identification and prioritisation. | Ochoa D et al. | β | 2021 | β |
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| Targeted analysis of genomic regions enriched in African ancestry reveals novel classical HLA alleles associated with asthma in Southwestern Europeans. | Suarez-Pajes E et al. | β | 2021 | β |
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| The Implications of ncRNAs in the Development of Human Diseases. | LΓ³pez-JimΓ©nez E et al. | β | 2021 | β |
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| TIGA: target illumination GWAS analytics. | Yang JJ et al. | β | 2021 | β |
| Triangulating Molecular Evidence to Prioritize Candidate Causal Genes at Established Atopic Dermatitis Loci. | Sobczyk MK et al. | β | 2021 | β |
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