15 years of GWAS discovery: Realizing the promise.
paper
Cited
Public
Unavailable
- Authors
- Abdellaoui, Abdel; Yengo, Loic; Verweij, Karin J H; Visscher, Peter M
- Year
- 2023
- Journal
- American journal of human genetics
- PMID
- 36634672
- DOI
- 10.1016/j.ajhg.2022.12.011
- PMCID
- PMC9943775
It has been 15 years since the advent of the genome-wide association study (GWAS) era. Here, we review how this experimental design has realized its promise by facilitating an impressive range of discoveries with remarkable impact on multiple fields, including population genetics, complex trait genetics, epidemiology, social science, and medicine. We predict that the emergence of large-scale biobanks will continue to expand to more diverse populations and capture more of the allele frequency spectrum through whole-genome sequencing, which will further improve our ability to investigate the causes and consequences of human genetic variation for complex traits and diseases.
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| Title | Year | PMID |
|---|---|---|
| Guidelines for Evaluating the Comparability of Down-Sampled GWAS Summary Statistics. | 2023 | 37713023 |
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| A 30-nation investigation of lay heritability beliefs. | Ferris LJ et al. | โ | 2024 | โ |
| A comprehensive framework for trans-ancestry pathway analysis using GWAS summary data from diverse populations. | Fu S et al. | โ | 2024 | โ |
| Advancing digital sensing in mental health research. | Akre S et al. | โ | 2024 | โ |
| A genome-wide association study identified candidate regions and genes for commercial traits in a Landrace population. | Ma G et al. | โ | 2024 | โ |
| A guide for planning triangulation studies to investigate complex causal questions in behavioural and psychiatric research. | Treur JL et al. | โ | 2024 | โ |
| A holistic approach to understanding immune-mediated inflammatory diseases: bioinformatic tools to integrate omics data. | Borrego-Yaniz G et al. | โ | 2024 | โ |
| A modeling of complex trait phenotypic variance determinants. | Hussain S | โ | 2024 | โ |
| Analysis of novel sleep variable highlights shared genetics of sleep and psychiatric disorders. | Lind MJ | โ | 2024 | โ |
| An approach to identify gene-environment interactions and reveal new biological insight in complex traits. | Zhu X et al. | โ | 2024 | โ |
| Ancestral genetic components are consistently associated with the complex trait landscape in European biobanks. | Pankratov V et al. | โ | 2024 | โ |
| An emerging multi-omic understanding of the genetics of opioid addiction. | Johnson EO et al. | โ | 2024 | โ |
| A regionally based precision medicine implementation initiative in North Africa:The PerMediNA consortium. | Hamdi Y et al. | โ | 2024 | โ |
| Are novel treatments for brain disorders hiding in plain sight? | Duncan L et al. | โ | 2024 | โ |
| A scalable adaptive quadratic kernel method for interpretable epistasis analysis in complex traits. | Fu B et al. | โ | 2024 | โ |
| Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds. | Wang Y et al. | โ | 2024 | โ |
| Beyond the factor indeterminacy problem using genome-wide association data. | Clapp Sullivan ML et al. | โ | 2024 | โ |
| Building machine learning prediction models for well-being using predictors from the exposome and genome in a population cohort. | Pelt DHM et al. | โ | 2024 | โ |
| Canadian COVID-19 host genetics cohort replicates known severity associations. | Garg E et al. | โ | 2024 | โ |
| Cardiovascular Pharmacogenetics: From Discovery of Genetic Association to Clinical Adoption of Derived Test. | Delabays B et al. | โ | 2024 | โ |
| COLOCdb: a comprehensive resource for multi-model colocalization of complex traits. | Pan S et al. | โ | 2024 | โ |
| Comparative Analysis of Fluorescence In Situ Hybridization and Next-Generation Sequencing in Sperm Evaluation: Implications for Preimplantation Genetic Testing and Male Infertility. | Moustakli E et al. | โ | 2024 | โ |
| Complementation testing identifies genes mediating effects at quantitative trait loci underlying fear-related behavior. | Chen PB et al. | โ | 2024 | โ |
| Crosstalk between epitranscriptomic and epigenomic modifications and its implication in human diseases. | Li C et al. | โ | 2024 | โ |
| Deciphering the impact of genomic variation on function. | IGVF Consortium | โ | 2024 | โ |
| Digital biobanks are underutilized in dermatology and create opportunities toย reduce the burden of skin disease. | Jumonville G et al. | โ | 2024 | โ |
| Discovery of candidate genes enhancing kernel protein content in tropical maize introgression lines. | Yang X et al. | โ | 2024 | โ |
| Discovery of new myositis genetic associations through leveraging other immune-mediated diseases. | Reales G et al. | โ | 2024 | โ |
| Dissecting the association between gut microbiota and hypertrophic scarring: a bidirectional Mendelian randomization study. | Xue K et al. | โ | 2024 | โ |
| Enhancing the Polygenic Score Catalog with tools for score calculation and ancestry normalization. | Lambert SA et al. | โ | 2024 | โ |
| Epigenomic insights into common human disease pathology. | Bell CG | โ | 2024 | โ |
| Estimation of a genetic Gaussian network using GWAS summary data. | Yang Y et al. | โ | 2024 | โ |
| Evaluating causal influence of maternal educational attainment on offspring birthweight via observational study and Mendelian randomization analyses. | Zhu Y et al. | โ | 2024 | โ |
| Exploring the genetic prediction of academic underachievement and overachievement. | Kawakami K et al. | โ | 2024 | โ |
| Expression quantitative trait loci influence DNA damage-induced apoptosis in cancer. | Bigge J et al. | โ | 2024 | โ |
| FastBiCmrMLM: a fast and powerful compressed variance component mixed logistic model for big genomic case-control genome-wide association study. | Wang JT et al. | โ | 2024 | โ |
| From genetic associations to genes: methods, applications, and challenges. | Qi T et al. | โ | 2024 | โ |
| Gene-environment interactions in human health. | Herrera-Luis E et al. | โ | 2024 | โ |
| Genetically Supported Drug Targets and Dental Traits: A Mendelian Randomization Study. | Liu L et al. | โ | 2024 | โ |
| Genetics of multiple sclerosis severity: The importance of statistical power in replication studies. | Harroud A et al. | โ | 2024 | โ |
| Genome-wide association studies for economically important traits in mink using copy number variation. | Davoudi P et al. | โ | 2024 | โ |
| Genome-wide association study identifies genetic regulation of oestrone concentrations and association with endometrial cancer risk in postmenopausal women. | Yu C et al. | โ | 2024 | โ |
| Genomic variation of European beech reveals signals of local adaptation despite high levels of phenotypic plasticity. | Lazic D et al. | โ | 2024 | โ |
| Hepatic immune regulation and sex disparities. | Burra P et al. | โ | 2024 | โ |
| Illuminating Shared Genetic Associations Between Oesophageal Carcinoma and Pulmonary Carcinoma Risk. | Zhang D et al. | โ | 2024 | โ |
| Impact of the inaccessible genome on genotype imputation and genome-wide association studies. | Kรถnig E et al. | โ | 2024 | โ |
| Integrating Large-Scale Protein Structure Prediction into Human Genetics Research. | Correa Marrero M et al. | โ | 2024 | โ |
| Interpretation of Neurodegenerative GWAS Risk Alleles in Microglia and their Interplay with Other Cell Types. | Holtman IR et al. | โ | 2024 | โ |
| Lifestyle-Driven Variations in Nutrimiromic MicroRNA Expression Patterns across and beyond Genders. | Pointner A et al. | โ | 2024 | โ |
| Methodologies underpinning polygenic risk scores estimation: a comprehensive overview. | Ndong Sima CAA et al. | โ | 2024 | โ |
| MR Corge: sensitivity analysis of Mendelian randomization based on the core gene hypothesis for polygenic exposures. | Zhang W et al. | โ | 2024 | โ |
| Multi-trait GWAS for diverse ancestries: mapping the knowledge gap. | Troubat L et al. | โ | 2024 | โ |
| Pathogenesis and Clinical Characteristics of Hereditary Arrhythmia Diseases. | Guo S et al. | โ | 2024 | โ |
| Pervasive biases in proxy genome-wide association studies based on parental history of Alzheimer's disease. | Wu Y et al. | โ | 2024 | โ |
| Phenome-wide association study of population-differentiating genetic variants around gene <i>ACSL1</i>. | Yang S et al. | โ | 2024 | โ |
| Pleiotropy, epistasis and the genetic architecture of quantitative traits. | Mackay TFC et al. | โ | 2024 | โ |
| Polygenic prediction for underrepresented populations through transfer learning by utilizing genetic similarity shared with European populations. | Zhu Y et al. | โ | 2024 | โ |
| Post-GWAS Validation of Target Genes Associated with HbF and HbA<sub>2</sub> Levels. | Caria CA et al. | โ | 2024 | โ |
| Principles and methods for transferring polygenic risk scores across global populations. | Kachuri L et al. | โ | 2024 | โ |
| Prioritizing disease-related rare variants by integrating gene expression data. | Guo H et al. | โ | 2024 | โ |
| Rare-variant association study unveils the Achilles' heel for HCC. | Wang Y et al. | โ | 2024 | โ |
| Recent Advances in Genomic Studies of Gestational Duration and Preterm Birth. | Srivastava AK et al. | โ | 2024 | โ |
| Recent advances in polygenic scores: translation, equitability, methods and FAIR tools. | Xiang R et al. | โ | 2024 | โ |
| Recurrent aphthous stomatitis and neoplasms of the mouth and pharynx: a two-sample Mendelian randomization study. | Yang Y et al. | โ | 2024 | โ |
| Review on GPU accelerated methods for genome-wide SNP-SNP interactions. | Ren W et al. | โ | 2024 | โ |
| Rice GWAS-to-Gene uncovers the polygenic basis of traits. | Xie X et al. | โ | 2024 | โ |
| RNA variant assessment using transactivation and transdifferentiation. | Nicolas-Martinez EC et al. | โ | 2024 | โ |
| Role of Enzymes Capable of Transporting Phosphatidylserine in Brain Development and Brain Diseases. | Li Y et al. | โ | 2024 | โ |
| Schoolhouse risk: Can we mitigate the polygenic Pygmalion effect? | Matthews LJ et al. | โ | 2024 | โ |
| Scientific clickbait: Examining media coverage and readability in genome-wide association research. | Morosoli JJ et al. | โ | 2024 | โ |
| Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations. | Capalbo A et al. | โ | 2024 | โ |
| Single nucleotide polymorphism profile for quantitative trait nucleotide in populations with small effective size and its impact on mapping and genomic predictions. | Pocrnic I et al. | โ | 2024 | โ |
| SNP-Based and Kmer-Based eQTL Analysis Using Transcriptome Data. | Ge M et al. | โ | 2024 | โ |
| SpRY-mediated screens facilitate functional dissection of non-coding sequences at single-base resolution. | Yao Y et al. | โ | 2024 | โ |
| Statistical examination of shared loci in neuropsychiatric diseases using genome-wide association study summary statistics. | Spargo TP et al. | โ | 2024 | โ |
| Statistical inference with large-scale trait imputation. | Ren J et al. | โ | 2024 | โ |
| Structural variations in livestock genomes and their associations with phenotypic traits: a review. | Chen Y et al. | โ | 2024 | โ |
| The goldmine of GWAS summary statistics: a systematic review of methods and tools. | Kontou PI et al. | โ | 2024 | โ |
| The gut microbiota and diabetes: research, translation, and clinical applications - 2023 Diabetes, Diabetes Care, and Diabetologia Expert Forum. | Byndloss M et al. | โ | 2024 | โ |
| The Gut Microbiota and Diabetes: Research, Translation, and Clinical Applications-2023 Diabetes, Diabetes Care, and Diabetologia Expert Forum. | Byndloss M et al. | โ | 2024 | โ |
| The Gut Microbiota and Diabetes: Research, Translation, and Clinical Applications-2023 Diabetes, Diabetes Care, and Diabetologia Expert Forum. | Byndloss M et al. | โ | 2024 | โ |
| The importance of family-based sampling for biobanks. | Davies NM et al. | โ | 2024 | โ |
| The Role of Interferon-Induced Proteins with Tetratricopeptide Repeats 1 and 2 in Sepsis-Induced Acute Liver Injury. | Liu Z et al. | โ | 2024 | โ |
| TIPS: a novel pathway-guided joint model for transcriptome-wide association studies. | Wang N et al. | โ | 2024 | โ |
| Toward GDPR compliance with the Helmholtz Munich genotype imputation server. | Rayner NW et al. | โ | 2024 | โ |
| Towards a Novel Frontier in the Use of Epigenetic Clocks in Epidemiology. | Martรญnez-Magaรฑa JJ et al. | โ | 2024 | โ |
| Transcriptome- and proteome-wide association studies identify genes associated with renal cell carcinoma. | Dutta D et al. | โ | 2024 | โ |
| Understanding the Genetic Architecture of Vitamin Status Biomarkers in the Genome-Wide Association Study Era: Biological Insights and Clinical Significance. | Reay WR et al. | โ | 2024 | โ |
| Unraveling the shared genetics of common epilepsies and general cognitive ability. | Karadag N et al. | โ | 2024 | โ |
| Using Omics to Identify Novel Therapeutic Targets in Heart Failure. | Lteif C et al. | โ | 2024 | โ |
| Using the phenotype differences model to identify genetic effects in samples of partially genotyped sibling pairs. | Trejo S et al. | โ | 2024 | โ |
| Utilizing non-invasive prenatal test sequencing data for human genetic investigation. | Liu S et al. | โ | 2024 | โ |
| Variation to biology: optimizing functional analysis of cancer risk variants. | Nelson S et al. | โ | 2024 | โ |
| VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation. | Heredia-Torrejรณn M et al. | โ | 2024 | โ |
| Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank. | Gaynor SM et al. | โ | 2024 | โ |
| A phenome-wide scan reveals convergence of common and rare variant associations. | Zhou D et al. | โ | 2023 | โ |
| Artificial selection reveals complex genetic architecture of shoot branching and its response to nitrate supply in Arabidopsis. | Tavares H et al. | โ | 2023 | โ |
| Benchmarking of local genetic correlation estimation methods using summary statistics from genome-wide association studies. | Zhang C et al. | โ | 2023 | โ |
| Causal Relationship between Gut Microbiota and Gout: A Two-Sample Mendelian Randomization Study. | Wang M et al. | โ | 2023 | โ |
| Characterizing the polygenic architecture of complex traits in populations of East Asian and European descent. | De Lillo A et al. | โ | 2023 | โ |
| Chloroplast gene expression: Recent advances and perspectives. | Zhang Y et al. | โ | 2023 | โ |
| Commentary on: Elkins KM, Garloff AT, Zeller CB. Additional predictions for forensic DNA phenotyping of externally visible characteristics using the ForenSeq and Imagen kits. J Forensic Sci. 2023;68(2):608-13. https://doi.org/10.1111/1556-4029.15215. | Wendt FR | โ | 2023 | โ |
| Dimensional and transdiagnostic phenotypes in psychiatric genome-wide association studies. | Waszczuk MA et al. | โ | 2023 | โ |
| Evaluating significance of European-associated index SNPs in the East Asian population for 31 complex phenotypes. | Qiao J et al. | โ | 2023 | โ |
| eXclusionarY: 10 years later, where are the sex chromosomes in GWASs? | Sun L et al. | โ | 2023 | โ |
| From target discovery to clinical drug development with human genetics. | Trajanoska K et al. | โ | 2023 | โ |
| Genetic Determinants of the Acute Respiratory Distress Syndrome. | Suarez-Pajes E et al. | โ | 2023 | โ |
| Genotype Data and Derived Genetic Instruments of Adolescent Brain Cognitive Development Study<sup>ยฎ</sup> for Better Understanding of Human Brain Development. | Fan CC et al. | โ | 2023 | โ |
| Germline mechanisms of immunotherapy toxicities in the era of genome-wide association studies. | Gusev A | โ | 2023 | โ |
| Guidelines for Evaluating the Comparability of Down-Sampled GWAS Summary Statistics. | Williams CM et al. | โ | 2023 | โ |
| Importance of human milk for infants in the clinical setting: Updates and mechanistic links. | Nagel EM et al. | โ | 2023 | โ |
| Integrating GWAS summary statistics, individual-level genotypic and omic data to enhance the performance for large-scale trait imputation. | Ren J et al. | โ | 2023 | โ |
| Maturity-Associated Polygenic Profiles of under 12-16-Compared to under 17-23-Year-Old Male English Academy Football Players. | McAuley ABT et al. | โ | 2023 | โ |
| SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C. | Nomura F et al. | โ | 2023 | โ |