Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.
- Authors
- Khera, Amit V; Chaffin, Mark; Aragam, Krishna G; Haas, Mary E; Roselli, Carolina; Choi, Seung Hoan; Natarajan, Pradeep; Lander, Eric S; Lubitz, Steven A; Ellinor, Patrick T; Kathiresan, Sekar
- Year
- 2018
- Journal
- Nature genetics
- PMID
- 30104762
- DOI
- 10.1038/s41588-018-0183-z
- PMCID
- PMC6128408
A key public health need is to identify individuals at high risk for a given disease to enable enhanced screening or preventive therapies. Because most common diseases have a genetic component, one important approach is to stratify individuals based on inherited DNA variation. Proposed clinical applications have largely focused on finding carriers of rare monogenic mutations at several-fold increased risk. Although most disease risk is polygenic in nature, it has not yet been possible to use polygenic predictors to identify individuals at risk comparable to monogenic mutations. Here, we develop and validate genome-wide polygenic scores for five common diseases. The approach identifies 8.0, 6.1, 3.5, 3.2, and 1.5% of the population at greater than threefold increased risk for coronary artery disease, atrial fibrillation, type 2 diabetes, inflammatory bowel disease, and breast cancer, respectively. For coronary artery disease, this prevalence is 20-fold higher than the carrier frequency of rare monogenic mutations conferring comparable risk. We propose that it is time to contemplate the inclusion of polygenic risk prediction in clinical care, and discuss relevant issues.
Study design and workflowA genome-wide polygenic score (GPS) for each disease was derived by combining summary association statistics from a recent large GWAS and a linkage disequilibrium reference panel of 503 Europeans.34 31 candidate GPS were derived using two strategies: 1. ‘pruning and thresholding’ – aggregation of independent polymorphisms that exceed a specified level of significance in the discovery GWAS and 2. LDPred computational algorithm,13 a Bayesian approach to calculate a posterior mean effect for all variants based on a prior (effect size in the prior GWAS) and subsequent shrinkage based on linkage disequilibrium. The seven candidate LDPred scores vary with respect to the tuning parameter ρ, the proportion of variants assumed to be causal, as previously recommended.13 The optimal GPS for each disease was chosen based on area under the receiver-operator curve (AUC) in the UK Biobank Phase I validation dataset (N=120,280 Europeans) and subsequently calculated in an independent UK Biobank Phase II testing dataset (N=288,978 Europeans).
Risk for coronary artery disease according to genome-wide polygenic score.(a) Distribution of genome-wide polygenic score for CAD (GPSCAD) in the UK biobank testing dataset (N=288,978). The x-axis represents GPSCAD, with values scaled to a mean of 0 and standard deviation of 1 to facilitate interpretation. Shading reflects proportion of population with 3, 4, and 5-fold increased risk versus remainder of the population. Odds ratio assessed in a logistic regression model adjusted for age, sex, genotyping array, and the first four principal components of ancestry; (b) GPSCAD percentile among CAD cases versus controls in the UK biobank validation cohort. Within each boxplot, the horizontal lines reflect the median, the top and bottom of the box reflects the interquartile range, and the whiskers reflect the maximum and minimum value within each grouping; (c) prevalence of CAD according to 100 groups of the validation cohort binned according to percentile of the GPSCAD.
Risk gradient for disease according to genome-wide polygenic score percentile100 groups of the validation cohort were derived according to percentile of the disease-specific GPS. Prevalence of disease displayed for risk of (a) atrial fibrillation, (b) type 2 diabetes, (c) inflammatory bowel disease, and (d) breast cancer according to GPS percentile.
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| Aspirin-exacerbated respiratory disease is associated with variants in filaggrin, epithelial integrity, and cellular interactions. | Jerschow E et al. | — | 2024 | → |
| Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds. | Wang Y et al. | — | 2024 | → |
| Assessing the predictive efficacy of European-based systolic blood pressure polygenic risk scores in diverse Brazilian cohorts. | Teixeira SK et al. | — | 2024 | → |
| Association between a polygenic lipodystrophy genetic risk score and diabetes risk in the high prevalence Maltese population. | Zammit M et al. | — | 2024 | → |
| Association between protein arginine <i>N</i>-methyltransferase 1 polymorphism and overt diabetic nephropathy: Role of asymmetric dimethylarginine in vascular tone. | Iwasaki H | — | 2024 | → |
| Association of birthweight and risk of incident dementia: a prospective cohort study. | Huang X et al. | — | 2024 | → |
| Associations between alcohol use disorder polygenic score and remission in participants from high-risk families and the Indiana Biobank. | Lai D et al. | — | 2024 | → |
| Associations between the life's essential 8, genetic risk and breast cancer incidence in premenopausal and postmenopausal women: a prospective study in UK Biobank. | Zhao Z et al. | — | 2024 | → |
| A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release. | Thompson DJ et al. | — | 2024 | → |
| A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk. | Jermy B et al. | — | 2024 | → |
| Blood Lipid Polygenic Risk Score Development and Application for Atherosclerosis Ultrasound Parameters. | Zaicenoka M et al. | — | 2024 | → |
| Body mass index stratification optimizes polygenic prediction of type 2 diabetes in cross-biobank analyses. | Ojima T et al. | — | 2024 | → |
| Breast Cancer Polygenic Risk Score Validation and Effects of Variable Imputation. | Beck JJ et al. | — | 2024 | → |
| Bridging the gap between omics research and dental practice. | Kabbashi S et al. | — | 2024 | → |
| CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. | Critical Assessment of Genome Interpretation Consortium | — | 2024 | → |
| Canadian COVID-19 host genetics cohort replicates known severity associations. | Garg E et al. | — | 2024 | → |
| CARD8 polymorphisms among bacterial meningitis patients in North-West Ethiopia. | Belayneh M et al. | — | 2024 | → |
| Cardiovascular Disease Burden, Mortality, and Sudden Death Risk in Epilepsy: A UK Biobank Study. | Shah RA et al. | — | 2024 | → |
| Causal relationship between blood traits and severe influenza A(H1N1)pdm09 infection in East Asian: A Mendelian randomization study. | Wang F et al. | — | 2024 | → |
| Causal relationships between diseases mined from the literature improve the use of polygenic risk scores. | Toonsi S et al. | — | 2024 | → |
| Characterizing the genetic architecture of drug response using gene-context interaction methods. | Sadowski M et al. | — | 2024 | → |
| Clinical associations with a polygenic predisposition to benign lower white blood cell counts. | Mosley JD et al. | — | 2024 | → |
| Clinical Genetic Testing for Atrial Fibrillation: Are We There Yet? | Roberts JD et al. | — | 2024 | → |
| Clinical use of polygenic risk scores for detection of peripheral artery disease and cardiovascular events. | Omiye JA et al. | — | 2024 | → |
| Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). | Grebe TA et al. | — | 2024 | → |
| Combined polygenic scores for ischemic stroke risk factors aid risk assessment of ischemic stroke. | Huang S et al. | — | 2024 | → |
| Comprehensive whole-genome analyses of the UK Biobank reveal significant sex differences in both genotype missingness and allele frequency on the X chromosome. | Chen DZ et al. | — | 2024 | → |
| Considerations for the application of polygenic scores to clinical care of individuals with substance use disorders. | Kember RL et al. | — | 2024 | → |
| Consumer Health Informatics to Advance Precision Prevention. | Canfell OJ et al. | — | 2024 | → |
| Correlation-based tests for the formal comparison of polygenic scores in multiple populations. | Gunn S et al. | — | 2024 | → |
| DeepRisk: A deep learning approach for genome-wide assessment of common disease risk. | Peng J et al. | — | 2024 | → |
| Developmental genetic effects on externalizing behavior and alcohol use: Examination across two longitudinal samples. | Elam KK et al. | — | 2024 | → |
| Development and evaluation of a polygenic risk score for lung cancer in never-smoking women: A large-scale prospective Chinese cohort study. | Wei X et al. | — | 2024 | → |
| Development and validation of a nomogram for premature coronary artery disease patients in Guangzhou. | Sun R et al. | — | 2024 | → |
| Early prediction of growth patterns after pediatric kidney transplantation based on height-related single-nucleotide polymorphisms. | Feng Y et al. | — | 2024 | → |
| Effectiveness of receiving cardiovascular disease genetic risk information on health behaviors, psychological responses, and associated risk factor modification in individuals: a systematic review protocol. | Chen RT et al. | — | 2024 | → |
| Efficacy of AI-Guided (GenAIS<sup>TM</sup>) Dietary Supplement Prescriptions versus Traditional Methods for Lowering LDL Cholesterol: A Randomized Parallel-Group Pilot Study. | Pokushalov E et al. | — | 2024 | → |
| Enhanced osteoporotic fracture prediction in postmenopausal women using Bayesian optimization of machine learning models with genetic risk score. | Wu Q et al. | — | 2024 | → |
| Enhanced Risk of Gastroesophageal Reflux Disease and Esophageal Complications in the Ulcerative Colitis Population. | Wang X et al. | — | 2024 | → |
| Enhancing the Prediction Power of Polygenic Risk Scores in Genetically Diverse Coronary Heart Disease. | Henry J et al. | — | 2024 | → |
| European and US Guideline-Based Statin Eligibility, Genetically Predicted Coronary Artery Disease, and the Risk of Major Coronary Events. | Park H et al. | — | 2024 | → |
| Evaluating cardiovascular disease risk stratification using multiple-polygenic risk scores and pooled cohort equations: insights from a 17-year longitudinal Korean cohort study. | Park YS et al. | — | 2024 | → |
| Evaluating polygenic risk scores for predicting cardiometabolic traits and disease risks in the Taiwan Biobank. | Chung RH et al. | — | 2024 | → |
| Evaluating the Efficacy of Type 2 Diabetes Polygenic Risk Scores in an Independent European Population. | Brīvība M et al. | — | 2024 | → |
| Evaluation of Polygenic Risk Scores for Prediction of Coronary Artery Disease in a Greek Case-Control Study. | Dimitriou M et al. | — | 2024 | → |
| Evaluation of polygenic scoring methods in five biobanks shows larger variation between biobanks than methods and finds benefits of ensemble learning. | Monti R et al. | — | 2024 | → |
| Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease. | Petrazzini BO et al. | — | 2024 | → |
| Exome-wide genetic risk score (ExGRS) to predict high myopia across multi-ancestry populations. | Yuan J et al. | — | 2024 | → |
| Exploring Multifactorial Relationships: Assessing the Correlation Between Cardiovascular Health Indicators and Metabolic Markers. | Shende S et al. | — | 2024 | → |
| Extracting immunological and clinical heterogeneity across autoimmune rheumatic diseases by cohort-wide immunophenotyping. | Tanaka H et al. | — | 2024 | → |
| Fast and scalable ensemble learning method for versatile polygenic risk prediction. | Chen T et al. | — | 2024 | → |
| From Drug Discovery to Drug Approval: A Comprehensive Review of the Pharmacogenomics Status Quo with a Special Focus on Egypt. | Elgarhy FM et al. | — | 2024 | → |
| Generalizability of polygenic prediction models: how is the R<sup>2</sup> defined on test data? | Staerk C et al. | — | 2024 | → |
| Genetically determined telomere length and its association with chronic obstructive pulmonary disease and interstitial lung disease in biobank Japan: A Mendelian randomization study. | Zhu Y et al. | — | 2024 | → |
| Genetic analysis of selection bias in a natural experiment: Investigating in-utero famine effects on elevated body mass index in the Dutch Hunger Winter Families Study. | Zhou J et al. | — | 2024 | → |
| [Genetic basis of atrial fibrillation-on the road to precision medicine]. | Kany S et al. | — | 2024 | → |
| Genetic Biomarkers in Heart Failure: From Gene Panels to Polygenic Risk Scores. | Figueiral M et al. | — | 2024 | → |
| Genetic modifiers of rare variants in monogenic developmental disorder loci. | Kingdom R et al. | — | 2024 | → |
| Genetic Risk Scores Identify People at High Risk of Developing Diabetic Kidney Disease: A Systematic Review. | Ali AS et al. | — | 2024 | → |
| Genetic Risk Stratification of Primary Open-Angle Glaucoma in Japanese Individuals. | Akiyama M et al. | — | 2024 | → |
| Genetics and etiology of congenital heart disease. | Narayan P et al. | — | 2024 | → |
| Genetics and Genomics of Pulmonary Fibrosis: Charting the Molecular Landscape and Shaping Precision Medicine. | Adegunsoye A et al. | — | 2024 | → |
| Genetics and Pharmacogenetics of Atrial Fibrillation: A Mechanistic Perspective. | Owais A et al. | — | 2024 | → |
| Genetics in clinical cardiology: the current state and opportunities ahead. | Agarwalla A et al. | — | 2024 | → |
| Genetics of hypertension-related sex differences and hypertensive disorders of pregnancy. | Nurkkala J et al. | — | 2024 | → |
| Genetics of liver disease in adults. | Konkwo C et al. | — | 2024 | → |
| Genetic studies of type 2 diabetes, and microvascular complications of diabetes. | Imamura M et al. | — | 2024 | → |
| Genetic Susceptibility to Arrhythmia Phenotypes in a Middle Eastern Cohort of 14,259 Whole-Genome Sequenced Individuals. | Qafoud F et al. | — | 2024 | → |
| Genetic testing in early-onset atrial fibrillation. | Kany S et al. | — | 2024 | → |
| Genetic Variants Associated with Hypertension Risk: Progress and Implications. | Curtis D | — | 2024 | → |
| Genome wide association study and genomic risk prediction of age related macular degeneration in Israel. | Grunin M et al. | — | 2024 | → |
| Genome-wide association study and polygenic score assessment of insulin resistance. | Aliyu U et al. | — | 2024 | → |
| Genome-wide association study on meningioma risk in Japan: a multicenter prospective study. | Yamada S et al. | — | 2024 | → |
| Genome-wide polygenic risk scores predict risk of glioma and molecular subtypes. | Nakase T et al. | — | 2024 | → |
| Germline Genetic Associations for Hepatobiliary Cancers. | Chotiprasidhi P et al. | — | 2024 | → |
| GLP1R Gene Expression and Kidney Disease Progression. | Triozzi JL et al. | — | 2024 | → |
| Gray matter volumetric correlates of the polygenic risk of depression: A study of the Human Connectome Project data. | Fu X et al. | — | 2024 | → |
| GWAS breakthroughs: mapping the journey from one locus to 393 significant coronary artery disease associations. | Aherrahrou R et al. | — | 2024 | → |
| GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region. | Ishikawa Y et al. | — | 2024 | → |
| Health economic analysis of polygenic risk score use in primary prevention of coronary artery disease - A system dynamics model. | Vernon ST et al. | — | 2024 | → |
| Hepatic immune regulation and sex disparities. | Burra P et al. | — | 2024 | → |
| Identification of interactions between genetic risk scores and dietary patterns for personalized prevention of kidney dysfunction in a population-based cohort. | Jang MJ et al. | — | 2024 | → |
| Identifying and characterizing disease subpopulations that most benefit from polygenic risk scores. | Isgut M et al. | — | 2024 | → |
| Improving on polygenic scores across complex traits using select and shrink with summary statistics (S4) and LDpred2. | Tyrer JP et al. | — | 2024 | → |
| Improving predictive accuracy in primary biliary cholangitis: A new genetic risk score. | Gerussi A et al. | — | 2024 | → |
| Imputation Server PGS: an automated approach to calculate polygenic risk scores on imputation servers. | Forer L et al. | — | 2024 | → |
| Incorporating functional annotation with bilevel continuous shrinkage for polygenic risk prediction. | Zhuang Y et al. | — | 2024 | → |
| Individual heterogeneity, educational attainment and cardiovascular mortality: a pooled analysis of Norwegian health surveys. | Nguyen HT et al. | — | 2024 | → |
| Induced Pluripotent Stem Cells as a Possible Approach for Exploring the Pathophysiology of Polycystic Ovary Syndrome (PCOS). | Khatun M et al. | — | 2024 | → |
| Influence of Polygenic Background on the Clinical Presentation of Familial Hypercholesterolemia. | Trinder M et al. | — | 2024 | → |
| Innovative approaches to atrial fibrillation prediction: should polygenic scores and machine learning be implemented in clinical practice? | Petzl AM et al. | — | 2024 | → |
| Integration of a polygenic score into guideline-recommended prediction of cardiovascular disease. | Li L et al. | — | 2024 | → |
| Integration of polygenic and gut metagenomic risk prediction for common diseases. | Liu Y et al. | — | 2024 | → |
| Integration of risk factor polygenic risk score with disease polygenic risk score for disease prediction. | Jung H et al. | — | 2024 | → |
| Interactions between Polygenic Risk of Obesity and Dietary Factors on Anthropometric Outcomes: A Systematic Review and Meta-Analysis of Observational Studies. | Han HY et al. | — | 2024 | → |
| Interpretation of Neurodegenerative GWAS Risk Alleles in Microglia and their Interplay with Other Cell Types. | Holtman IR et al. | — | 2024 | → |
| Japan Atherosclerosis Society (JAS) Guidelines for Prevention of Atherosclerotic Cardiovascular Diseases 2022. | Okamura T et al. | — | 2024 | → |
| Joint and interactive associations of body mass index and genetic factors with cardiovascular disease: a prospective study in UK Biobank. | Huang R et al. | — | 2024 | → |
| Joint effects of air pollution and genetic susceptibility on incident primary open-angle glaucoma. | Huang HN et al. | — | 2024 | → |
| Joint impact of polygenic risk score and lifestyles on early- and late-onset cardiovascular diseases. | China Kadoorie Biobank Collaborative Group | — | 2024 | → |
| Joint modeling of gene-environment correlations and interactions using polygenic risk scores in case-control studies. | Wang Z et al. | — | 2024 | → |
| Leveraging functional genomic annotations and genome coverage to improve polygenic prediction of complex traits within and between ancestries. | Zheng Z et al. | — | 2024 | → |
| Leveraging large-scale datasets and single cell omics data to develop a polygenic score for cisplatin-induced ototoxicity. | Miao DNR et al. | — | 2024 | → |
| Life's essential 8, genetic susceptibility, and risk of inflammatory bowel diseases: a population-based cohort study. | Yang H et al. | — | 2024 | → |
| Lipid Association of India 2023 update on cardiovascular risk assessment and lipid management in Indian patients: Consensus statement IV. | Puri R et al. | — | 2024 | → |
| Longer and better lives for patients with atrial fibrillation: the 9th AFNET/EHRA consensus conference. | Linz D et al. | — | 2024 | → |
| Longitudinal Genome-Wide Association Study of Cognitive Impairment after Subarachnoid Hemorrhage. | Hong EP et al. | — | 2024 | → |
| Low birthweight in patients with type 2 diabetes is associated with elevated risk of cardiovascular events and mortality. | Hansen AL et al. | — | 2024 | → |
| Lymphocyte Count Derived Polygenic Score and Interindividual Variability in CD4 T-cell Recovery in Response to Antiretroviral Therapy. | Cardone KM et al. | — | 2024 | → |
| Machine learning-based health environmental-clinical risk scores in European children. | Guimbaud JB et al. | — | 2024 | → |
| Mendelian Randomization Studies in Atherosclerotic Cardiovascular Diseases. | Ko DS et al. | — | 2024 | → |
| Metabolites Associated with Polygenic Risk of Breast Cancer. | Samuels E et al. | — | 2024 | → |
| Metabolomic and genomic prediction of common diseases in 700,217 participants in three national biobanks. | Nightingale Health Biobank Collaborative Group | — | 2024 | → |
| Methodologies underpinning polygenic risk scores estimation: a comprehensive overview. | Ndong Sima CAA et al. | — | 2024 | → |
| Molecular mechanisms linking type 2 diabetes mellitus and late-onset Alzheimer's disease: A systematic review and qualitative meta-analysis. | Lemche E et al. | — | 2024 | → |
| Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization. | Smith JL et al. | — | 2024 | → |
| Multi-polygenic scores in psychiatry: From disorder specific to transdiagnostic perspectives. | Shi Y et al. | — | 2024 | → |
| Native Hawaiian and Pacific Islander populations in genomic research. | Ha EK et al. | — | 2024 | → |
| Nonmodifiable Risk Factors Predict Outcomes in Brugada Syndrome. | Kukavica D et al. | — | 2024 | → |
| Novel Aspects of Immunogenetics and Post-Transplant Events in Kidney Transplantation. | Helanterä I et al. | — | 2024 | → |
| Novel Polygenic Risk Score and Established Clinical Risk Factors for Risk Estimation of Aortic Stenosis. | Small AM et al. | — | 2024 | → |
| Obesity risk in young adults from the Jerusalem Perinatal Study (JPS): the contribution of polygenic risk and early life exposure. | Hochner H et al. | — | 2024 | → |
| Optimizing and benchmarking polygenic risk scores with GWAS summary statistics. | Zhao Z et al. | — | 2024 | → |
| Parkinson's Disease is Predominantly a Genetic Disease. | Lim SY et al. | — | 2024 | → |
| Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease. | Towns C et al. | — | 2024 | → |
| Pathophysiology and clinical relevance of atrial myopathy. | Tubeeckx MRL et al. | — | 2024 | → |
| Pathophysiology and stratification of treatment-resistant rheumatoid arthritis. | Yamada S et al. | — | 2024 | → |
| Penetrance and expressivity of mitochondrial variants in a large clinically unselected population. | Cannon SJ et al. | — | 2024 | → |
| Personalized Intervention Based on Early Detection of Atherosclerosis: JACC State-of-the-Art Review. | Nielsen RV et al. | — | 2024 | → |
| Perspectives on genetic studies of type 2 diabetes from the genome-wide association studies era to precision medicine. | Imamura M et al. | — | 2024 | → |
| Pharmacogenomics Beyond Single Common Genetic Variants: The Way Forward. | Lauschke VM et al. | — | 2024 | → |
| Pharmacogenomic scores in psychiatry: systematic review of current evidence. | Sharew NT et al. | — | 2024 | → |
| Pharmacogenomics polygenic risk score: Ready or not for prime time? | Singh S et al. | — | 2024 | → |
| PharmGWAS: a GWAS-based knowledgebase for drug repurposing. | Kang H et al. | — | 2024 | → |
| Polygenic embryo screening: quo vadis? | Siermann M et al. | — | 2024 | → |
| Polygenic Interactions With Environmental Exposures in Blood Pressure Regulation: The HUNT Study. | Øvretveit K et al. | — | 2024 | → |
| Polygenic prediction for underrepresented populations through transfer learning by utilizing genetic similarity shared with European populations. | Zhu Y et al. | — | 2024 | → |
| Polygenic Risk and Coronary Artery Disease Severity. | Sherafati A et al. | — | 2024 | → |
| Polygenic risk and incident coronary heart disease in a large multiethnic cohort. | Iribarren C et al. | — | 2024 | → |
| Polygenic risk and rare variant gene clustering enhance cancer risk stratification for breast and prostate cancers. | Kang JH et al. | — | 2024 | → |
| Polygenic Risk Associations with Clinical Characteristics and Recurrence of Dupuytren Disease. | Riesmeijer SA et al. | — | 2024 | → |
| Polygenic risk for Alzheimer's disease is associated with neuroaxonal damage before onset of clinical symptoms. | Kagerer SM et al. | — | 2024 | → |
| Polygenic Risk Is Associated With Long-Term Coronary Plaque Progression and High-Risk Plaque. | Nurmohamed NS et al. | — | 2024 | → |
| Polygenic Risk of Epilepsy and Poststroke Epilepsy. | Clocchiatti-Tuozzo S et al. | — | 2024 | → |
| Polygenic Risk Score Assessment for Coronary Artery Disease in Asian Indians. | Rout M et al. | — | 2024 | → |
| Polygenic Risk Score Associates With Atherosclerotic Plaque Characteristics at Autopsy. | Cornelissen A et al. | — | 2024 | → |
| Polygenic risk score-based phenome-wide association study of head and neck cancer across two large biobanks. | Lee YC et al. | — | 2024 | → |
| Polygenic risk score-based prediction of breast cancer risk in Taiwanese women with dense breast using a retrospective cohort study. | Hung CC et al. | — | 2024 | → |
| Polygenic risk score for blood pressure and lifestyle factors with overall and CVD mortality: a prospective cohort study in a Japanese population. | Fujii R et al. | — | 2024 | → |
| Polygenic risk score predicts all-cause death in East Asian patients with prior coronary artery disease. | Qin M et al. | — | 2024 | → |
| Polygenic Risk Scores and Extreme Coronary Artery Calcium Phenotypes (CAC=0 and CAC≥1000) in Adults ≥75 Years Old: The ARIC Study. | Dzaye O et al. | — | 2024 | → |
| Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events. | Heyne HO et al. | — | 2024 | → |
| Polygenic risk scores associate with blood pressure traits across the lifespan. | Øvretveit K et al. | — | 2024 | → |
| Polygenic risk scores for cardiovascular risk prediction: moving towards implementation into clinical practice? | Christoffersen M et al. | — | 2024 | → |
| Polygenic Risk Scores for Glaucoma Onset in the Ocular Hypertension Treatment Study. | Singh RK et al. | — | 2024 | → |
| Polygenic Risk Scores in Predicting Coronary Artery Disease in Symptomatic Patients. A Validation Study. | Kujala I et al. | — | 2024 | → |
| Polygenic Risk Scores: The Next Step for Improved Risk Stratification in Coronary Artery Disease? | Stein R et al. | — | 2024 | → |
| Polygenic Risk Scores Validated in Patient-Derived Cells Stratify for Mitochondrial Subtypes of Parkinson's Disease. | Arena G et al. | — | 2024 | → |
| Polygenic risk-stratified screening for nasopharyngeal carcinoma in high-risk endemic areas of China: a cost-effectiveness study. | Yang DW et al. | — | 2024 | → |
| Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction. | Yiangou K et al. | — | 2024 | → |
| Polygenic Scores and Preclinical Cardiovascular Disease in Individuals With HIV: Insights From the REPRIEVE Trial. | Zou RS et al. | — | 2024 | → |
| Polygenic scores for complex traits are associated with changes in concentration of circulating lipid species. | Tabassum R et al. | — | 2024 | → |
| Polygenic Scoring for Detection of Ascending Thoracic Aortic Dilation. | DePaolo J et al. | — | 2024 | → |
| Population Heterogeneity and Selection of Coronary Artery Disease Polygenic Scores. | Debernardi C et al. | — | 2024 | → |
| Precision Medicine for Cardiovascular Prevention and Population Health: A Bridge Too Far? | Giugni FR et al. | — | 2024 | → |
| Predicting Pancreatic Cancer in New-Onset Diabetes Cohort Using a Novel Model With Integrated Clinical and Genetic Indicators: A Large-Scale Prospective Cohort Study. | Sun Y et al. | — | 2024 | → |
| Prediction of atherosclerotic cardiovascular risk in early childhood. | Ferraro S et al. | — | 2024 | → |
| Prediction of disease-free survival for precision medicine using cooperative learning on multi-omic data. | Hahn G et al. | — | 2024 | → |
| Prediction of incident atrial fibrillation using deep learning, clinical models, and polygenic scores. | Jabbour G et al. | — | 2024 | → |
| Preimplantation Genetic Testing for Polygenetic Conditions: A Legal, Ethical, and Scientific Challenge. | Ginod P et al. | — | 2024 | → |
| Principles and methods for transferring polygenic risk scores across global populations. | Kachuri L et al. | — | 2024 | → |
| Prognostic and Immunological Role of Cuproptosis-Related Gene MTF1 in Pan-Cancer. | Zhang C et al. | — | 2024 | → |
| Prognostic mutation signature would serve as a potential prognostic predictor in patients with diffuse large B-cell lymphoma. | Cho SF et al. | — | 2024 | → |
| Protein nanoparticles as drug delivery systems for cancer theranostics. | Hua Y et al. | — | 2024 | → |
| R2ROC: an efficient method of comparing two or more correlated AUC from out-of-sample prediction using polygenic scores. | Momin MM et al. | — | 2024 | → |
| Ready, Set, Sort! A User-Guide to Card Sorts for Community-Engaged Empirical Bioethics. | Meagher KM et al. | — | 2024 | → |
| Recent advances in polygenic scores: translation, equitability, methods and FAIR tools. | Xiang R et al. | — | 2024 | → |
| Refining ischemic stroke risk using combined polygenic scores. Are we ready for the clinical use? | Ramoni D et al. | — | 2024 | → |
| 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. | — | 2024 | → |
| Relationship between Polygenic Risk Score and the Hypnotics in Bipolar I Disorder. | Lee HW et al. | — | 2024 | → |
| Replacing device-measured sedentary time with physical activity is associated with lower risk of coronary heart disease regardless of genetic risk. | Kim Y et al. | — | 2024 | → |
| Rethinking the pros and cons of randomized controlled trials and observational studies in the era of big data and advanced methods: a panel discussion. | Fernainy P et al. | — | 2024 | → |
| Return of polygenic risk scores in research: Stakeholders' views on the eMERGE-IV study. | Sabatello M et al. | — | 2024 | → |
| Review article: Prevention of inflammatory bowel disease-The path forward. | Bronze S et al. | — | 2024 | → |
| Risk prediction and interaction analysis using polygenic risk score of type 2 diabetes in a Korean population. | Song M et al. | — | 2024 | → |
| Schizophrenia genomics: genetic complexity and functional insights. | Sullivan PF et al. | — | 2024 | → |
| Scientific and Clinical Impacts of UK Biobank in Cardiovascular Medicine. | Lewandowski AJ et al. | — | 2024 | → |
| Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations. | Capalbo A et al. | — | 2024 | → |
| Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. | Lennon NJ et al. | — | 2024 | → |
| Sex inequalities in cardiovascular risk prediction. | Elliott J et al. | — | 2024 | → |
| Sex-Specific Association Between Genetic Risk of Psychiatric Disorders and Cardiovascular Diseases. | Jiang JC et al. | — | 2024 | → |
| shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores. | Kelemen M et al. | — | 2024 | → |
| Shared genetic mechanisms underlying association between sleep disturbances and depressive symptoms. | Moyses-Oliveira M et al. | — | 2024 | → |
| Single-Ancestry versus Multi-Ancestry Polygenic Risk Scores for CKD in Black American Populations. | Jones AC et al. | — | 2024 | → |
| Stacked neural network for predicting polygenic risk score. | Kim SB et al. | — | 2024 | → |
| Stroke Genetics, Genomics, and Precision Medicine. | Debette S et al. | — | 2024 | → |
| Strong Genes: Insights Into Polygenic Risk and Coronary Artery Calcium in Older Individuals. | Patel AP | — | 2024 | → |
| The clinical relevance of a polygenic risk score for type 2 diabetes mellitus in the Korean population. | Kim NY et al. | — | 2024 | → |
| The effect of family structure on the still-missing heritability and genomic prediction accuracy of type 2 diabetes. | Amiri Roudbar M et al. | — | 2024 | → |
| The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos. | Xia Y et al. | — | 2024 | → |
| The Genetics of Inflammatory Bowel Disease. | El Hadad J et al. | — | 2024 | → |
| The GenoPred pipeline: a comprehensive and scalable pipeline for polygenic scoring. | Pain O et al. | — | 2024 | → |
| The impact of taxing sugar-sweetened beverages on diabetes: a critical review. | Peñalvo JL | — | 2024 | → |
| The multifaceted role of mitochondria in cardiac function: insights and approaches. | Ravindran S et al. | — | 2024 | → |
| The Past, the Present, and the Future of Genomic Therapies in Cardiovascular Disease. | McNally EM et al. | — | 2024 | → |
| The PRIMED Consortium: Reducing disparities in polygenic risk assessment. | Kullo IJ et al. | — | 2024 | → |
| The relationship between 11 different polygenic longevity scores, parental lifespan, and disease diagnosis in the UK Biobank. | Don J et al. | — | 2024 | → |
| The researcher's guide to selecting biomarkers in mental health studies. | Verhoeven JE et al. | — | 2024 | → |
| The risk of venous thromboembolism in oral contraceptive users: the role of genetic factors-a prospective cohort study of 240,000 women in the UK Biobank. | Lo Faro V et al. | — | 2024 | → |
| The Role of Genetics in Managing Peripheral Arterial Disease. | Biagetti G et al. | — | 2024 | → |
| Trans-Ancestral Genetic Risk Factors for Treatment-Related Type 2 Diabetes Mellitus in Survivors of Childhood Cancer. | Im C et al. | — | 2024 | → |
| Transforming the cardiometabolic disease landscape: Multimodal AI-powered approaches in prevention and management. | Muse ED et al. | — | 2024 | → |
| Tuning parameters for polygenic risk score methods using GWAS summary statistics from training data. | Jiang W et al. | — | 2024 | → |
| Ultra-processed food, genetic risk, and the risk of cardiometabolic diseases and cardiometabolic multimorbidity: A prospective study. | Wang J et al. | — | 2024 | → |
| Understanding genetic variants in context. | Sinnott-Armstrong N et al. | — | 2024 | → |
| Unlocking Clinical Precision Through Polygenic Risk Prediction. | Sathian B et al. | — | 2024 | → |
| Unraveling the mystery of oligogenic inheritance under way? | Lee Y et al. | — | 2024 | → |
| Use of Artificial Intelligence in Improving Outcomes in Heart Disease: A Scientific Statement From the American Heart Association. | Armoundas AA et al. | — | 2024 | → |
| Use of Diagnostic Codes for Primary Open-Angle Glaucoma Polygenic Risk Score Construction in Electronic Health Record-Linked Biobanks. | Tran JH et al. | — | 2024 | → |
| Use of Genomics to Develop Novel Therapeutics and Personalize Hypertension Therapy. | Magavern EF et al. | — | 2024 | → |
| Use of Polygenic Risk Score for Prediction of Heart Failure in Cancer Survivors. | Soh CH et al. | — | 2024 | → |
| Using Machine Learning to Evaluate the Value of Genetic Liabilities in the Classification of Hypertension within the UK Biobank. | MacCarthy G et al. | — | 2024 | → |
| Using polygenic risk modification to improve breast cancer prevention: study protocol for the PRiMo multicentre randomised controlled trial. | McInerny S et al. | — | 2024 | → |
| Utility of polygenic scores across diverse diseases in a hospital cohort for predictive modeling. | Sun TH et al. | — | 2024 | → |
| What Causes Premature Coronary Artery Disease? | Le A et al. | — | 2024 | → |
| 150 risk variants for diverticular disease of intestine prioritize cell types and enable polygenic prediction of disease susceptibility. | Wu Y et al. | — | 2023 | → |
| 15 years of GWAS discovery: Realizing the promise. | Abdellaoui A et al. | — | 2023 | → |
| Accuracy of haplotype estimation and whole genome imputation affects complex trait analyses in complex biobanks. | Appadurai V et al. | — | 2023 | → |
| A comparative study of model-centric and data-centric approaches in the development of cardiovascular disease risk prediction models in the UK Biobank. | Mamouei M et al. | — | 2023 | → |
| Addressing the ethical and societal challenges posed by genome-wide association studies of behavioral and brain-related traits. | de Hemptinne MC et al. | — | 2023 | → |
| Advances and Applications of Polygenic Scores for Coronary Artery Disease. | Patel AP et al. | — | 2023 | → |
| Advances in basic and translational research in atrial fibrillation. | Hu D et al. | — | 2023 | → |
| Advances in sequencing technologies for amyotrophic lateral sclerosis research. | Udine E et al. | — | 2023 | → |
| Advancing stroke genetics in Hawai'i and the Pacific Islands. | Brown SC et al. | — | 2023 | → |
| Advancing the communication of genetic risk for cardiometabolic diseases: a critical interpretive synthesis. | Law JH et al. | — | 2023 | → |
| A flexible empirical Bayes approach to multivariate multiple regression, and its improved accuracy in predicting multi-tissue gene expression from genotypes. | Morgante F et al. | — | 2023 | → |
| A genome-wide association, polygenic risk score and sex study on opioid use disorder treatment outcomes. | McEvoy A et al. | — | 2023 | → |
| A Genomic Risk Score Identifies Individuals at High Risk for Intracerebral Hemorrhage. | Myserlis EP et al. | — | 2023 | → |
| AI-based multi-PRS models outperform classical single-PRS models. | Klau JH et al. | — | 2023 | → |
| Air pollution, genetic susceptibility, and the risk of atrial fibrillation: A large prospective cohort study. | Ma Y et al. | — | 2023 | → |
| Allergic disease trajectories up to adolescence: Characteristics, early-life, and genetic determinants. | Kilanowski A et al. | — | 2023 | → |
| A Mendelian Randomization Analysis of 55 Genetically Predicted Metabolic Traits with Breast Cancer Survival Outcomes in the Pathways Study. | Fiorica PN et al. | — | 2023 | → |
| A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease. | Patel AP et al. | — | 2023 | → |
| A multilocus genetic risk score for obesity: Association with BMI and metabolic alterations in a cohort with severe obesity. | Sag SJM et al. | — | 2023 | → |
| A narrative review of precision medicine in neonatal sepsis: genetic and epigenetic factors associated with disease susceptibility. | Dai W et al. | — | 2023 | → |
| Ancestry-specific polygenic risk scores are risk enhancers for clinical cardiovascular disease assessments. | Busby GB et al. | — | 2023 | → |
| An effective hyper-parameter can increase the prediction accuracy in a single-step genetic evaluation. | Neshat M et al. | — | 2023 | → |
| A new method for multiancestry polygenic prediction improves performance across diverse populations. | Zhang H et al. | — | 2023 | → |
| An international perspective on low-dose aspirin for the primary prevention of myocardial infarction. | Dasa O et al. | — | 2023 | → |
| Annual Research Review: Perspectives on progress in ADHD science - from characterization to cause. | Sonuga-Barke EJS et al. | — | 2023 | → |
| A polygenic and family risk score are both independently associated with risk of type 2 diabetes in a population-based study. | Duschek E et al. | — | 2023 | → |
| A Polygenic Risk Score for Idiopathic Pulmonary Fibrosis and Interstitial Lung Abnormalities. | Moll M et al. | — | 2023 | → |
| A polygenic risk score predicts atrial fibrillation in cardiovascular disease. | Marston NA et al. | — | 2023 | → |
| A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies. | Aranda-Guillén M et al. | — | 2023 | → |
| Application of next generation sequencing in cardiology: current and future precision medicine implications. | Papadopoulou E et al. | — | 2023 | → |
| Applications of Polygenic Risk Scores in Psychiatric Genetics. | Mao Q et al. | — | 2023 | → |
| Applying polygenic risk score methods to pharmacogenomics GWAS: challenges and opportunities. | Zhai S et al. | — | 2023 | → |
| A prediction model for the impact of environmental and genetic factors on cardiovascular events: development in a salt substitutes population. | Zhao D et al. | — | 2023 | → |
| A proteomic analysis of atrial fibrillation in a prospective longitudinal cohort (AGES-Reykjavik study). | Jonmundsson T et al. | — | 2023 | → |
| A qualitative study exploring the consumer experience of receiving self-initiated polygenic risk scores from a third-party website. | Lowes K et al. | — | 2023 | → |
| A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases. | Leggatt GP et al. | — | 2023 | → |
| Assessing the performance of European-derived cardiometabolic polygenic risk scores in South-Asians and their interplay with family history. | Hassanin E et al. | — | 2023 | → |
| Assessing the performance of genetic risk score for stratifying risk of post-sepsis cardiovascular complications. | McElligott B et al. | — | 2023 | → |
| Assessing the prediction of type 2 diabetes risk using polygenic and clinical risk scores in South Asian study populations. | Rout M et al. | — | 2023 | → |
| Association and Interaction of Genetics and Area-Level Socioeconomic Factors on the Prevalence of Type 2 Diabetes and Obesity. | Cromer SJ et al. | — | 2023 | → |
| Association between Genotype and the Glycemic Response to an Oral Glucose Tolerance Test: A Systematic Review. | Bayer S et al. | — | 2023 | → |
| Association of Combined Exposure to Ambient Air Pollutants, Genetic Risk, and Incident Rheumatoid Arthritis: A Prospective Cohort Study in the UK Biobank. | Zhang J et al. | — | 2023 | → |
| Association of genetic risk and outcomes in patients with atrial fibrillation: interactions with early rhythm control in the EAST-AFNET4 trial. | Kany S et al. | — | 2023 | → |
| Association of polygenic scores with chronic kidney disease phenotypes in a longitudinal study of older adults. | Bakshi A et al. | — | 2023 | → |
| Associations of polygenic inheritance of physical activity with aerobic fitness, cardiometabolic risk factors and diseases: the HUNT study. | Tynkkynen NP et al. | — | 2023 | → |
| A Systematic Review and Critical Assessment of Breast Cancer Risk Prediction Tools Incorporating a Polygenic Risk Score for the General Population. | Mbuya-Bienge C et al. | — | 2023 | → |
| A systematic review of genome-wide association studies for pain, nociception, neuropathy, and pain treatment responses. | Li S et al. | — | 2023 | → |
| Atlas of plasma NMR biomarkers for health and disease in 118,461 individuals from the UK Biobank. | Julkunen H et al. | — | 2023 | → |
| Australian parental perceptions of genomic newborn screening for non-communicable diseases. | Casauria S et al. | — | 2023 | → |
| Ayurgenomics-based frameworks in precision and integrative medicine: Translational opportunities. | Mukerji M | — | 2023 | → |
| Biobank-scale methods and projections for sparse polygenic prediction from machine learning. | Raben TG et al. | — | 2023 | → |
| Birthweight is associated with clinical characteristics in people with recently diagnosed type 2 diabetes. | Hansen AL et al. | — | 2023 | → |
| Building a precision medicine infrastructure at a national level: The Swedish experience. | Edsjö A et al. | — | 2023 | → |
| Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation. | Jain PR et al. | — | 2023 | → |
| Cardiovascular Disease Risk Assessment Using Traditional Risk Factors and Polygenic Risk Scores in the Million Veteran Program. | Vassy JL et al. | — | 2023 | → |
| Cardiovascular risk assessment: The key path toward precision prevention. | Li J et al. | — | 2023 | → |
| Central and Peripheral Nervous System Complications of Vasculitis Syndromes from Pathology to Bedside: Part 2-Peripheral Nervous System. | Mansueto G et al. | — | 2023 | → |
| Characterizing the polygenic architecture of complex traits in populations of East Asian and European descent. | De Lillo A et al. | — | 2023 | → |
| Chronic kidney disease in children: an update. | Cirillo L et al. | — | 2023 | → |
| Clinical and Genetic Atrial Fibrillation Risk and Discrimination of Cardioembolic From Noncardioembolic Stroke. | Weng LC et al. | — | 2023 | → |
| Clinical applications of polygenic risk score for coronary artery disease through the life course. | Fahed AC et al. | — | 2023 | → |
| Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence. | Hassanin E et al. | — | 2023 | → |
| Clinical utility of polygenic risk scores: a critical 2023 appraisal. | Koch S et al. | — | 2023 | → |
| Clinical utility of polygenic scores for cardiometabolic disease in Arabs. | Shim I et al. | — | 2023 | → |
| Combining European and U.S. risk prediction models with polygenic risk scores to refine cardiovascular prevention: the CoLaus|PsyCoLaus Study. | de La Harpe R et al. | — | 2023 | → |
| Congenital fibrinogen disorders: Strengthening genotype-phenotype correlations through novel genetic diagnostic tools. | Ramanan R et al. | — | 2023 | → |
| Connecting the Dots From GWAS to Function in Atrial Fibrillation for <i>ZFHX3</i>. | Wass SY et al. | — | 2023 | → |
| Contribution of Lipoprotein(a) to Polygenic Risk Prediction of Coronary Artery Disease: A Prospective UK Biobank Analysis. | Manikpurage HD et al. | — | 2023 | → |
| Coronary Artery Calcium Score and Polygenic Risk Score for the Prediction of Coronary Heart Disease Events. | Khan SS et al. | — | 2023 | → |
| Coronary Artery Disease Risk Prediction in Young Adults: How Can We Overcome the Dominant Effect of Age? | Saadatagah S et al. | — | 2023 | → |
| Cost-effectiveness analysis of implementing polygenic risk score in a workplace cardiovascular disease prevention program. | Mujwara D et al. | — | 2023 | → |
| Cost-effectiveness of polygenic risk profiling for primary open-angle glaucoma in the United Kingdom and Australia. | Liu Q et al. | — | 2023 | → |
| Current State and Future of Polygenic Risk Scores in Cardiometabolic Disease: A Scoping Review. | Phulka JS et al. | — | 2023 | → |
| Danish study of Non-Invasive Testing in Coronary Artery Disease 3 (Dan-NICAD 3): study design of a controlled study on optimal diagnostic strategy. | Winther S et al. | — | 2023 | → |
| DCIS and LCIS: Are the Risk Factors for Developing In Situ Breast Cancer Different? | Timbres J et al. | — | 2023 | → |
| Deep integrative models for large-scale human genomics. | Sigurdsson AI et al. | — | 2023 | → |
| Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries. | An U et al. | — | 2023 | → |
| Deep learning-based polygenic risk analysis for Alzheimer's disease prediction. | Zhou X et al. | — | 2023 | → |
| Development of a Polygenic Risk Score for BMI to Assess the Genetic Susceptibility to Obesity and Related Diseases in the Korean Population. | Yoon N et al. | — | 2023 | → |
| Development of Competency-based Online Genomic Medicine Training (COGENT). | Haga SB et al. | — | 2023 | → |
| Development of risk prediction models for depression combining genetic and early life risk factors. | Lu T et al. | — | 2023 | → |
| Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations. | Thareja G et al. | — | 2023 | → |
| DNA methylation markers for kidney function and progression of diabetic kidney disease. | Li KY et al. | — | 2023 | → |
| Effects of gene-lifestyle interactions on obesity based on a multi-locus risk score: A cross-sectional analysis. | Nakamura S et al. | — | 2023 | → |
| Efficient gene editing in induced pluripotent stem cells enabled by an inducible adenine base editor with tunable expression. | Nandy K et al. | — | 2023 | → |
| Egg consumption and risk of coronary artery disease, potential amplification by high genetic susceptibility: a prospective cohort study. | Xia X et al. | — | 2023 | → |
| Elective genomic testing: Practice resource of the National Society of Genetic Counselors. | Blout Zawatsky CL et al. | — | 2023 | → |
| Emerging Concepts in Precision Medicine in Axial Spondyloarthritis. | Allard-Chamard H et al. | — | 2023 | → |
| Epidemiology and modifiable risk factors for atrial fibrillation. | Elliott AD et al. | — | 2023 | → |
| Epigenetics of Early Cardiometabolic Disease: Mechanisms and Precision Medicine. | Baccarelli AA et al. | — | 2023 | → |
| Ethical layering in AI-driven polygenic risk scores-New complexities, new challenges. | Fritzsche MC et al. | — | 2023 | → |
| Ethical, legal, and social implications of genetic risk prediction for multifactorial disease: a narrative review identifying concerns about interpretation and use of polygenic scores. | Chapman CR | — | 2023 | → |
| Ethnic disparities in fracture risk assessment using polygenic scores. | Xiao X et al. | — | 2023 | → |
| Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry. | Darst BF et al. | — | 2023 | → |
| Evaluation of a genetic risk score computed using human chromosomal-scale length variation to predict breast cancer. | Ko C et al. | — | 2023 | → |
| Evaluation of Genetic and Nongenetic Risk Factors for Degenerative Cervical Myelopathy. | Shlykov MA et al. | — | 2023 | → |
| Evaluation of optimal methods and ancestries for calculating polygenic risk scores in East Asian population. | Kim DJ et al. | — | 2023 | → |
| eXclusionarY: 10 years later, where are the sex chromosomes in GWASs? | Sun L et al. | — | 2023 | → |
| Explainable multi-task learning improves the parallel estimation of polygenic risk scores for many diseases through shared genetic basis. | Badré A et al. | — | 2023 | → |
| Fast and accurate Bayesian polygenic risk modeling with variational inference. | Zabad S et al. | — | 2023 | → |
| From SNP to pathway-based GWAS meta-analysis: do current meta-analysis approaches resolve power and replication in genetic association studies? | Defo J et al. | — | 2023 | → |
| Functional Genome Analysis for Immune Cells Provides Clues for Stratification of Systemic Lupus Erythematosus. | Fujio K | — | 2023 | → |
| Gene-based burden scores identify rare variant associations for 28 blood biomarkers. | Aldisi R et al. | — | 2023 | → |
| Generalisation of genomic findings and applications of polygenic risk scores. | Corpas M et al. | — | 2023 | → |
| Gene Teams are on the Field: Evaluation of Variants in Gene-Networks Using High Dimensional Modelling. | Tuna S et al. | — | 2023 | → |
| Genetically predicted waist-to-hip circumference ratio and coronary artery disease: A sex-specific Mendelian randomization study. | Ye Q et al. | — | 2023 | → |
| Genetic and modifiable risk factors combine multiplicatively in common disease. | Pang S et al. | — | 2023 | → |
| Genetic determinants and absence of breast cancer in Xavante Indians in Sangradouro Reserve, Brazil. | Zhou Y et al. | — | 2023 | → |
| Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy. | Yu M et al. | — | 2023 | → |
| Genetic insights into ossification of the posterior longitudinal ligament of the spine. | Koike Y et al. | — | 2023 | → |
| Genetic Mechanisms Behind Severe Psychotic Reactions to Levetiracetam. | Andrade DM | — | 2023 | → |
| Genetic predictors of lifelong medication-use patterns in cardiometabolic diseases. | Kiiskinen T et al. | — | 2023 | → |
| Genetic predisposition may not improve prediction of cardiac surgery-associated acute kidney injury. | Douville NJ et al. | — | 2023 | → |
| Genetic risk factors for postoperative atrial fibrillation-a nationwide genome-wide association study (GWAS). | Christensen MA et al. | — | 2023 | → |
| Genetic Risk Scores and Missing Heritability in Ovarian Cancer. | Fatapour Y et al. | — | 2023 | → |
| Genetics and precision health: the ecological fallacy and artificial intelligence solutions. | Williams SM et al. | — | 2023 | → |
| Genetics-based risk scores for prediction of premature coronary artery disease. | Gupta R | — | 2023 | → |
| Genetic, sociodemographic, lifestyle, and clinical risk factors of recurrent coronary artery disease events: a population-based cohort study. | Cho SMJ et al. | — | 2023 | → |
| Genetics of diabetes. | Goyal S et al. | — | 2023 | → |
| Genetics of Postsurgical Pain: Where Do We Go from Here? | Meloto CB | — | 2023 | → |
| Genetics of SLE: does this explain susceptibility and severity across racial groups? | Demkova K et al. | — | 2023 | → |
| Genetic Testing for Familial Hypercholesterolemia in Clinical Practice. | Tricou EP et al. | — | 2023 | → |
| Genome and atrial fibrillation. | Nakano Y | — | 2023 | → |
| Genome-Wide Analysis of Rare Haplotypes Associated with Breast Cancer Risk. | Wang F et al. | — | 2023 | → |
| Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy. | Kiryluk K et al. | — | 2023 | → |
| Genome-wide association studies of cardiovascular disease. | Walsh R et al. | — | 2023 | → |
| Genome-Wide Association Study of Cardiovascular Resilience Identifies Protective Variation in the <i>CETP</i> Gene. | Yu C et al. | — | 2023 | → |
| Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program. | Klarin D et al. | — | 2023 | → |
| Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism. | Ghouse J et al. | — | 2023 | → |
| Genome-wide polygenic risk scores for hypertensive disease during pregnancy can also predict the risk for long-term cardiovascular disease. | Lee SM et al. | — | 2023 | → |
| Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study. | Zheng M et al. | — | 2023 | → |
| Genomic Innovation in Early Life Cardiovascular Disease Prevention and Treatment. | Li C et al. | — | 2023 | → |
| Genomic risk prediction of cardiovascular diseases among type 2 diabetes patients in the UK Biobank. | Ye Y et al. | — | 2023 | → |
| Genotyping, sequencing and analysis of 140,000 adults from Mexico City. | Ziyatdinov A et al. | — | 2023 | → |
| Golgi apparatus, endoplasmic reticulum and mitochondrial function implicated in Alzheimer's disease through polygenic risk and RNA sequencing. | Crawford K et al. | — | 2023 | → |
| Harnessing the Power of Precision Medicine and Novel Biomarkers to Treat Crohn's Disease. | Kriger-Sharabi OA et al. | — | 2023 | → |
| High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench. | Bergen DJM et al. | — | 2023 | → |
| High-Throughput CSF Proteomics and Machine Learning to Identify Proteomic Signatures for Parkinson Disease Development and Progression. | Tsukita K et al. | — | 2023 | → |
| Host-microbe tryptophan partitioning in cardiovascular diseases. | Russo MA et al. | — | 2023 | → |
| How do experts in psychiatric genetics view the clinical utility of polygenic risk scores for schizophrenia? | Moorthy T et al. | — | 2023 | → |
| Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience. | Glotov OS et al. | — | 2023 | → |
| Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins. | DeForest N et al. | — | 2023 | → |
| Human Genomics of COVID-19 Pneumonia: Contributions of Rare and Common Variants. | Cobat A et al. | — | 2023 | → |
| Identification and analysis of individuals who deviate from their genetically-predicted phenotype. | Hawkes G et al. | — | 2023 | → |
| Identifying Rare Genetic Determinants for Improved Polygenic Risk Prediction of Bone Mineral Density and Fracture Risk. | Lu T et al. | — | 2023 | → |
| Implementing Core Genes and an Omnigenic Model for Behaviour Traits Prediction in Genomics. | Rancelis T et al. | — | 2023 | → |
| Improving polygenic score prediction for coronary artery disease across populations of diverse ancestry. | — | — | 2023 | → |
| Independent and Combined Associations of Sleep Duration, Bedtime, and Polygenic Risk Score with the Risk of Hearing Loss among Middle-Aged and Old Chinese: The Dongfeng-Tongji Cohort Study. | Liu M et al. | — | 2023 | → |
| Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions. | Xiao B et al. | — | 2023 | → |
| Integrating Indices of Genetic Risk for Cardiovascular Disease. | Honigberg MC et al. | — | 2023 | → |
| Integration of Biomarker Polygenic Risk Score Improves Prediction of Coronary Heart Disease. | Lin J et al. | — | 2023 | → |
| Intermediate Molecular Phenotypes to Identify Genetic Markers of Anthracycline-Induced Cardiotoxicity Risk. | Gómez-Vecino A et al. | — | 2023 | → |
| Investigating genetic variants for treatment response to selective serotonin reuptake inhibitors in syndromal factors and side effects among patients with depression in Taiwanese Han population. | Huang SS et al. | — | 2023 | → |
| Investigation of heteroscedasticity in polygenic risk scores across 15 quantitative traits. | Jung H et al. | — | 2023 | → |
| iPSC-derived organ-on-a-chip models for personalized human genetics and pharmacogenomics studies. | Palasantzas VEJM et al. | — | 2023 | → |
| Japanese Translation and Validation of Genomic Knowledge Measure in the International Genetics Literacy and Attitudes Survey (iGLAS-GK). | Yoshida A et al. | — | 2023 | → |
| Leveraging base-pair mammalian constraint to understand genetic variation and human disease. | Sullivan PF et al. | — | 2023 | → |
| Leveraging Multi-Ancestry Polygenic Risk Scores for Body Mass Index to Predict Antiretroviral Therapy-Induced Weight Gain. | Keat K et al. | — | 2023 | → |
| Lifestyle, Genetic Susceptibility, and the Risk of Idiopathic Pulmonary Fibrosis: A Large Prospective Cohort Study. | Ma Y et al. | — | 2023 | → |
| Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores. | Siermann M et al. | — | 2023 | → |
| Long-term risk of inflammatory bowel disease after endoscopic biopsy with normal mucosa: A population-based, sibling-controlled cohort study in Sweden. | Sun J et al. | — | 2023 | → |
| Low and differential polygenic score generalizability among African populations due largely to genetic diversity. | Majara L et al. | — | 2023 | → |
| Low birthweight is associated with a higher incidence of type 2 diabetes over two decades independent of adult BMI and genetic predisposition. | Wibaek R et al. | — | 2023 | → |
| Machine learning-based marker for coronary artery disease: derivation and validation in two longitudinal cohorts. | Forrest IS et al. | — | 2023 | → |
| Mind body medicine: a modern bio-psycho-social model forty-five years after Engel. | Fricchione G | — | 2023 | → |
| Minimal improvement in coronary artery disease risk prediction in Chinese population using polygenic risk scores: evidence from the China Kadoorie Biobank. | Yang S et al. | — | 2023 | → |
| Modifiable cardiovascular risk factors and genetics for targeted prevention of dementia. | Juul Rasmussen I et al. | — | 2023 | → |
| Molecular Biomarkers for Cardiometabolic Disease: Risk Assessment in Young Individuals. | Tahir UA et al. | — | 2023 | → |
| Molecular Mechanisms of Vascular Health: Insights From Vascular Aging and Calcification. | Sutton NR et al. | — | 2023 | → |
| Monogenic diabetes. | Bonnefond A et al. | — | 2023 | → |
| Mortality of patients with ST-segment-elevation myocardial infarction without standard modifiable risk factors among patients without known coronary artery disease: Age-stratified and sex-related analysis from nationwide readmissions database 2010-2014. | Jang SJ et al. | — | 2023 | → |
| Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus. | Khunsriraksakul C et al. | — | 2023 | → |
| Multi-PGS enhances polygenic prediction by combining 937 polygenic scores. | Albiñana C et al. | — | 2023 | → |
| Multivariate extension of penalized regression on summary statistics to construct polygenic risk scores for correlated traits. | Bahda M et al. | — | 2023 | → |
| Navigating the uncertainty of precision cancer screening: The role of shared decision-making. | Gallagher JH et al. | — | 2023 | → |
| New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications. | Andreassen OA et al. | — | 2023 | → |
| Omics approaches to understanding the efficacy and safety of disease-modifying treatments in multiple sclerosis. | Lorefice L et al. | — | 2023 | → |
| Opportunities and Challenges with Artificial Intelligence in Genomics. | Kurant DE | — | 2023 | → |
| Optimal strategies for learning multi-ancestry polygenic scores vary across traits. | Lehmann B et al. | — | 2023 | → |
| Oral Microbiota Alteration and Roles in Epstein-Barr Virus Reactivation in Nasopharyngeal Carcinoma. | Liao Y et al. | — | 2023 | → |
| Overestimated prediction using polygenic prediction derived from summary statistics. | Park DK et al. | — | 2023 | → |
| Perceived benefits and barriers to implementing precision preventive care: Results of a national physician survey. | Vassy JL et al. | — | 2023 | → |
| Polygenic architecture of rare coding variation across 394,783 exomes. | Weiner DJ et al. | — | 2023 | → |
| Polygenic Background Modifies Risk of Coronary Artery Disease Among Individuals With Heterozygous Familial Hypercholesterolemia. | Reeskamp LF et al. | — | 2023 | → |
| Polygenic prediction across populations is influenced by ancestry, genetic architecture, and methodology. | Wang Y et al. | — | 2023 | → |
| Polygenic risk alters the penetrance of monogenic kidney disease. | Khan A et al. | — | 2023 | → |
| Polygenic Risk and Chemotherapy-Related Subsequent Malignancies in Childhood Cancer Survivors: A Childhood Cancer Survivor Study and St Jude Lifetime Cohort Study Report. | Im C et al. | — | 2023 | → |
| Polygenic risk, lifestyle and the lifetime risk of coronary artery disease. | de Vries PS | — | 2023 | → |
| Polygenic Risk of Prediabetes, Undiagnosed Diabetes, and Incident Type 2 Diabetes Stratified by Diabetes Risk Factors. | Liu X et al. | — | 2023 | → |
| Polygenic Risk Prediction in Diverticulitis. | De Roo AC et al. | — | 2023 | → |
| Polygenic Risk, Rare Variants, and Family History: Independent and Additive Effects on Coronary Heart Disease. | Saadatagah S et al. | — | 2023 | → |
| Polygenic risk score association with multiple sclerosis susceptibility and phenotype in Europeans. | Shams H et al. | — | 2023 | → |
| Polygenic risk score in comparison with C-reactive protein for predicting incident coronary heart disease. | Aday AW et al. | — | 2023 | → |
| Polygenic risk scores and breast cancer risk prediction. | Roberts E et al. | — | 2023 | → |
| Polygenic risk scores and risk stratification in deep vein thrombosis. | Lo Faro V et al. | — | 2023 | → |
| Polygenic risk scores are associated with atrial electrophysiologic substrate abnormalities and outcomes after atrial fibrillation catheter ablation. | Al-Kaisey A et al. | — | 2023 | → |
| Polygenic risk scores enhance prediction of body mass index increase in individuals with a first episode of psychosis. | Muntané G et al. | — | 2023 | → |
| Polygenic risk scores for complex diseases: Where are we now? | Loh M et al. | — | 2023 | → |
| Polygenic risk scores for prediction of atrial fibrillation. | Kavousi M et al. | — | 2023 | → |
| Polygenic risk scores for the prediction of cardiometabolic disease. | O'Sullivan JW et al. | — | 2023 | → |
| Polygenic risk scores in coronary artery disease. | Christiansen MK et al. | — | 2023 | → |
| Polygenic risk scores in pharmacogenomics: opportunities and challenges-a mini review. | Simona A et al. | — | 2023 | → |
| Polygenic risk scores point toward potential genetic mechanisms of type 2 myocardial infarction in people with HIV. | Lee WJ et al. | — | 2023 | → |
| Polygenic scores for estimated glomerular filtration rate in a population of general adults and elderly - comparative results from the KORA and AugUR study. | Herold JM et al. | — | 2023 | → |
| Polygenic scores for psychiatric disorders in a diverse postmortem brain tissue cohort. | Duncan L et al. | — | 2023 | → |
| Polygenic Scores in the Direct-to-Consumer Setting: Challenges and Opportunities for a New Era in Consumer Genetic Testing. | Park JK et al. | — | 2023 | → |
| Pragmatic Approach to Applying Polygenic Risk Scores to Diverse Populations. | Patel AP et al. | — | 2023 | → |
| Precision medicine in complex diseases-Molecular subgrouping for improved prediction and treatment stratification. | Johansson Å et al. | — | 2023 | → |
| Predicting type 2 diabetes risk before and after solid organ transplantation using polygenic scores in a Danish cohort. | Dos Santos Q et al. | — | 2023 | → |
| Predictive capacity of a genetic risk score for coronary artery disease in assessing recurrences and cardiovascular mortality among patients with myocardial infarction. | Rincón LM et al. | — | 2023 | → |
| Primary aldosteronism and lower-extremity arterial disease: a two-sample Mendelian randomization study. | Hu J et al. | — | 2023 | → |
| Primary care physician use of patient race and polygenic risk scores in medical decision-making. | Kerman BJ et al. | — | 2023 | → |
| Profiling the inflammatory bowel diseases using genetics, serum biomarkers, and smoking information. | Liu R et al. | — | 2023 | → |
| Prognostic evaluation of polygenic risk score underlying pan-cancer analysis: evidence from two large-scale cohorts. | Xin J et al. | — | 2023 | → |
| Progress in genetics of type 2 diabetes and diabetic complications. | Shojima N et al. | — | 2023 | → |
| Proteomics and lipidomics in atherosclerotic cardiovascular disease risk prediction. | Nurmohamed NS et al. | — | 2023 | → |
| PRSet: Pathway-based polygenic risk score analyses and software. | Choi SW et al. | — | 2023 | → |
| Questionnaire-Based Polyexposure Assessment Outperforms Polygenic Scores for Classification of Type 2 Diabetes in a Multiancestry Cohort. | Akhtari FS et al. | — | 2023 | → |
| Rank concordance of polygenic indices. | Muslimova D et al. | — | 2023 | → |
| Rare penetrant mutations confer severe risk of common diseases | Fiziev P et al. | — | 2023 | — |
| Rare penetrant mutations confer severe risk of common diseases. | Fiziev PP et al. | — | 2023 | → |
| Relationship of Family Genetic Risk Score With Diagnostic Trajectory in a Swedish National Sample of Incident Cases of Major Depression, Bipolar Disorder, Other Nonaffective Psychosis, and Schizophrenia. | Kendler KS et al. | — | 2023 | → |
| Research progress and challenges of preimplantation genetic testing for polygenic diseases. | Wu X et al. | — | 2023 | → |
| Returning integrated genomic risk and clinical recommendations: The eMERGE study. | Linder JE et al. | — | 2023 | → |
| Review: Predictive approaches to breast cancer risk. | Huang S et al. | — | 2023 | → |
| Role of non-coding variants in cardiovascular disease. | Heshmatzad K et al. | — | 2023 | → |
| Role of polygenic risk scores in the association between chronotype and health risk behaviors. | Zhang Y et al. | — | 2023 | → |
| SDPRX: A statistical method for cross-population prediction of complex traits. | Zhou G et al. | — | 2023 | → |
| Sex differences in predictive factors for onset of type 2 diabetes in Japanese individuals: A 15-year follow-up study. | Yoshimoto M et al. | — | 2023 | → |
| Sex differences in the genetic and molecular mechanisms of coronary artery disease. | Sakkers TR et al. | — | 2023 | → |
| Sex-Specific Survival Bias and Interaction Modeling in Coronary Artery Disease Risk Prediction. | Surakka I et al. | — | 2023 | → |
| SGLT2 Inhibitors in the Treatment of Diabetic Kidney Disease: More than Just Glucose Regulation. | Klen J et al. | — | 2023 | → |
| Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndrome. | Downie ML et al. | — | 2023 | → |
| Sibling variation in polygenic traits and DNA recombination mapping with UK Biobank and IVF family data. | Lello L et al. | — | 2023 | → |
| Significance tests for R<sup>2</sup> of out-of-sample prediction using polygenic scores. | Momin MM et al. | — | 2023 | → |
| Single-cell genomics meets human genetics. | Cuomo ASE et al. | — | 2023 | → |
| Stakeholder Perception of the Implementation of Genetic Risk Testing for Twelve Multifactorial Diseases. | Tokutomi T et al. | — | 2023 | → |
| Statistical Methods for Disease Risk Prediction with Genotype Data. | Xia X et al. | — | 2023 | → |
| Steps to Improve Precision Medicine in Epilepsy. | Balestrini S et al. | — | 2023 | → |
| Strategies for generating mouse model resources of human disease. | Pan J et al. | — | 2023 | → |
| The Applicability of Polygenic Risk Scores in Under-Represented Populations. | Riefski K et al. | — | 2023 | → |
| The clinical utility of the BMD-related comprehensive genome-wide polygenic score in identifying individuals with a high risk of osteoporotic fractures. | Xiao X et al. | — | 2023 | → |
| The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations. | Stalbow LA et al. | — | 2023 | → |
| The effect of adjusting LDL-cholesterol for Lp(a)-cholesterol on the diagnosis of familial hypercholesterolaemia. | Thayabaran D et al. | — | 2023 | → |
| The emergence of genotypic divergence and future precision medicine applications. | Kauffman MA et al. | — | 2023 | → |
| The genetics of non-monogenic IBD. | Jans D et al. | — | 2023 | → |
| The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care. | Vassy JL et al. | — | 2023 | → |
| The immunogenetics of tuberculosis (TB) susceptibility. | Ndong Sima CAA et al. | — | 2023 | → |
| The Interleukin 6 Protein Level as well as a Genetic Variants, (rs1800795, rs1800797) Are Associated with Adverse Cardiovascular Outcomes within 10-Years Follow-Up. | Schulz S et al. | — | 2023 | → |
| The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data. | Leonard HL et al. | — | 2023 | → |
| The Lancet Commission to reduce the global burden of sudden cardiac death: a call for multidisciplinary action. | Marijon E et al. | — | 2023 | → |
| The molecular pathology of schizophrenia: an overview of existing knowledge and new directions for future research. | Nakamura T et al. | — | 2023 | → |
| The necessity of incorporating non-genetic risk factors into polygenic risk score models. | van Dam S et al. | — | 2023 | → |
| The Non-Invasive Assessment of Circulating D-Loop and mt-ccf Levels Opens an Intriguing Spyhole into Novel Approaches for the Tricky Diagnosis of NASH. | Paolini E et al. | — | 2023 | → |
| The power of TOPMed imputation for the discovery of Latino-enriched rare variants associated with type 2 diabetes. | Huerta-Chagoya A et al. | — | 2023 | → |
| The Role of Phosphatidylethanolamine N-Methyltransferase (<i>PEMT</i>) and Its Waist-Hip-Ratio-Associated Locus rs4646404 in Obesity-Related Metabolic Traits and Liver Disease. | Sun C et al. | — | 2023 | → |
| The role of polygenic risk scores in breast cancer risk perception and decision-making. | Riddle L et al. | — | 2023 | → |
| Towards modifying the genetic predisposition for glaucoma: An overview of the contribution and interaction of genetic and environmental factors. | Stuart KV et al. | — | 2023 | → |
| Trans-ancestry polygenic models for the prediction of LDL blood levels: an analysis of the United Kingdom Biobank and Taiwan Biobank. | Hassanin E et al. | — | 2023 | → |
| Trans-ethnic genomic informed risk assessment for Alzheimer's disease: An International Hundred K+ Cohorts Consortium study. | Sleiman PM et al. | — | 2023 | → |
| Uncovering associations between pre-existing conditions and COVID-19 Severity: A polygenic risk score approach across three large biobanks. | Fritsche LG et al. | — | 2023 | → |
| Unlocking the Gut-Cardiac Axis: A Paradigm Shift in Cardiovascular Health. | Akshay A et al. | — | 2023 | → |
| Using epigenomics to understand cellular responses to environmental influences in diseases. | Wattacheril JJ et al. | — | 2023 | → |
| Variant-based heritability assessment of dexmedetomidine and fentanyl clearance in pediatric patients. | Shannon ML et al. | — | 2023 | → |
| A combined polygenic score of 21,293 rare and 22 common variants improves diabetes diagnosis based on hemoglobin A1C levels. | Dornbos P et al. | — | 2022 | → |
| A comprehensive evaluation of polygenic score and genotype imputation performances of human SNP arrays in diverse populations. | Nguyen DT et al. | — | 2022 | → |
| Addressing the Challenges and Barriers to the Integration of Machine Learning into Clinical Practice: An Innovative Method to Hybrid Human-Machine Intelligence. | Ed-Driouch C et al. | — | 2022 | → |
| Addressing the challenges of polygenic scores in human genetic research. | Novembre J et al. | — | 2022 | → |
| Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse. | Pujol-Gualdo N et al. | — | 2022 | → |
| A Machine Learning Model Based on Genetic and Traditional Cardiovascular Risk Factors to Predict Premature Coronary Artery Disease. | Liu B et al. | — | 2022 | → |
| A Modern Approach to Dyslipidemia. | Berberich AJ et al. | — | 2022 | → |
| ApoJ/Clusterin concentrations are determinants of cerebrospinal fluid cholesterol efflux capacity and reduced levels are associated with Alzheimer's disease. | Ko YA et al. | — | 2022 | → |
| A Principal Component Informed Approach to Address Polygenic Risk Score Transferability Across European Cohorts. | Pärna K et al. | — | 2022 | → |
| A randomized clinical trial of genetic testing and personalized risk counselling in patients with type 2 diabetes receiving integrated care -The genetic testing and patient empowerment (GEM) trial. | Ma RCW et al. | — | 2022 | → |
| Assessing agreement between different polygenic risk scores in the UK Biobank. | Clifton L et al. | — | 2022 | → |
| Association of a Multiancestry Genome-Wide Blood Pressure Polygenic Risk Score With Adverse Cardiovascular Events. | Parcha V et al. | — | 2022 | → |
| Association of NFKB1 gene rs28362491 mutation with the occurrence of major adverse cardiovascular events. | Luo JY et al. | — | 2022 | → |
| Association of Non-Steroidal Anti-Inflammatory Drugs, Genetic Risk, and Environmental Risk Factors with Incidence of Colorectal Cancer. | Ren J et al. | — | 2022 | → |
| Association of polygenic risk scores with incident atherosclerotic cardiovascular disease events among individuals with coronary artery calcium score of zero: The multi-ethnic study of atherosclerosis. | Al Rifai M et al. | — | 2022 | → |
| Association of TGFB1 rs1800469 and BCMO1 rs6564851 with coronary heart disease and IL1B rs16944 with all-cause mortality in men from the Northern Ireland PRIME study. | Mooney RE et al. | — | 2022 | → |
| Associations between polygenic risk of coronary artery disease and type 2 diabetes, lifestyle, and cardiovascular mortality: A prospective UK Biobank study. | Yun JS et al. | — | 2022 | → |
| A Systematic Review of Polygenic Models for Predicting Drug Outcomes. | Siemens A et al. | — | 2022 | → |
| Barriers to genetic testing in clinical psychiatry and ways to overcome them: from clinicians' attitudes to sociocultural differences between patients across the globe. | Pinzón-Espinosa J et al. | — | 2022 | → |
| Big Data in cardiac surgery: real world and perspectives. | Montisci A et al. | — | 2022 | → |
| Biobanking as a Tool for Genomic Research: From Allele Frequencies to Cross-Ancestry Association Studies. | Lazareva TE et al. | — | 2022 | → |
| Broad clinical manifestations of polygenic risk for coronary artery disease in the Women's Health Initiative. | Clarke SL et al. | — | 2022 | → |
| Cannabinoid Therapeutic Effects in Inflammatory Bowel Diseases: A Systematic Review and Meta-Analysis of Randomized Controlled Trials. | Vinci A et al. | — | 2022 | → |
| Capturing additional genetic risk from family history for improved polygenic risk prediction. | Lu T et al. | — | 2022 | → |
| Charting the Landscape of Genetic Overlap Between Mental Disorders and Related Traits Beyond Genetic Correlation. | Hindley G et al. | — | 2022 | → |
| Clinical Implementation of Combined Monogenic and Polygenic Risk Disclosure for Coronary Artery Disease. | Maamari DJ et al. | — | 2022 | → |
| Clinicians' Perceptions towards Precision Medicine Tools for Cardiovascular Disease Risk Stratification in South Africa. | Kamp M et al. | — | 2022 | → |
| Colorectal cancer-associated SNP rs17042479 is involved in the regulation of NAF1 promoter activity. | Olsson JB et al. | — | 2022 | → |
| Concerns about the use of polygenic embryo screening for psychiatric and cognitive traits. | Lencz T et al. | — | 2022 | → |
| Considering strategies for SNP selection in genetic and polygenic risk scores. | St-Pierre J et al. | — | 2022 | → |
| Contribution of Genome-Wide Polygenic Score to Risk of Coronary Artery Disease in Childhood Cancer Survivors. | Sapkota Y et al. | — | 2022 | → |
| Contribution of schizophrenia polygenic burden to longitudinal phenotypic variance in 22q11.2 deletion syndrome. | Alver M et al. | — | 2022 | → |
| Cost-Effectiveness of Polygenic Risk Scores to Guide Statin Therapy for Cardiovascular Disease Prevention. | Kiflen M et al. | — | 2022 | → |
| Dawn of the Era of Individualized Genetic Profiling in the Prevention of Sudden Cardiac Death. | Hernesniemi JA | — | 2022 | → |
| Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification. | Dapas M et al. | — | 2022 | → |
| Defining the extent of gene function using ROC curvature. | Fischer S et al. | — | 2022 | → |
| Developing and validating polygenic risk scores for colorectal cancer risk prediction in East Asians. | Ping J et al. | — | 2022 | → |
| Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations. | Ge T et al. | — | 2022 | → |
| Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants. | Aragam KG et al. | — | 2022 | → |
| Dissecting the clinical relevance of polygenic risk score for obesity-a cross-sectional, longitudinal analysis. | Choe EK et al. | — | 2022 | → |
| Diversity in Polygenic Risk of Primary Open-Angle Glaucoma. | Cooke Bailey JN et al. | — | 2022 | → |
| Earlier treatment in adults with high lifetime risk of cardiovascular diseases: What prevention trials are feasible and could change clinical practice? Report of a National Heart, Lung, and Blood Institute (NHLBI) Workshop. | Navar AM et al. | — | 2022 | → |
| Economic evaluation of using polygenic risk score to guide risk screening and interventions for the prevention of type 2 diabetes in individuals with high overall baseline risk. | Martikainen J et al. | — | 2022 | → |
| Editorial: Bridging (Epi-) Genomics and Environmental Changes: The Livestock Research. | Duan JE et al. | — | 2022 | → |
| Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation. | Hollister BM et al. | — | 2022 | → |
| Effectiveness and feasibility of cardiovascular disease personalized prevention on high polygenic risk score subjects: a randomized controlled pilot study. | Viigimaa M et al. | — | 2022 | → |
| Ensemble machine learning identifies genetic loci associated with future worsening of disability in people with multiple sclerosis. | Fuh-Ngwa V et al. | — | 2022 | → |
| Ethics of Buying DNA. | Koplin JJ et al. | — | 2022 | → |
| European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases. | Wilde AAM et al. | — | 2022 | → |
| Evaluating the Potential of Polygenic Risk Score to Improve Colorectal Cancer Screening. | Arnau-Collell C et al. | — | 2022 | → |
| Evolutionary Origins of Metabolic Reprogramming in Cancer. | García-Sancha N et al. | — | 2022 | → |
| ExPRSweb: An online repository with polygenic risk scores for common health-related exposures. | Ma Y et al. | — | 2022 | → |
| Gattaca as a lens on contemporary genetics: marking 25 years into the film's "not-too-distant" future. | Ogbunugafor CB et al. | — | 2022 | → |
| Gene Sequencing Identifies Perturbation in Nitric Oxide Signaling as a Nonlipid Molecular Subtype of Coronary Artery Disease. | Khera AV et al. | — | 2022 | → |
| Genetic and environmental variation impact transferability of polygenic risk scores. | Araújo DS et al. | — | 2022 | → |
| Genetic Architectures Underlie Onset Age of Atopic Dermatitis. | Hikino K et al. | — | 2022 | → |
| Genetic Aspects of Age-Related Macular Degeneration and Their Therapeutic Potential. | Stradiotto E et al. | — | 2022 | → |
| Genetic determinants of polygenic prediction accuracy within a population. | Lu T et al. | — | 2022 | → |
| Genetic Risk for Osteoporosis and the Benefit of Adherence to Healthy Lifestyles. | Yang YQ et al. | — | 2022 | → |
| Genetic risk scores and dementia risk across different ethnic groups in UK Biobank. | Mukadam N et al. | — | 2022 | → |
| Genetics of congenital arrhythmia syndromes: the challenge of variant interpretation. | Glazer AM | — | 2022 | → |
| Genetic stratification of motor and QoL outcomes in Parkinson's disease in the EARLYSTIM study. | Weiss D et al. | — | 2022 | → |
| Genome Reporting for Healthy Populations-Pipeline for Genomic Screening from the GENCOV COVID-19 Study. | Frangione E et al. | — | 2022 | → |
| Genome-wide analyses identify novel risk loci for cluster headache in Han Chinese residing in Taiwan. | Chen SP et al. | — | 2022 | → |
| Genome-wide association study reveals ethnicity-specific SNPs associated with ankylosing spondylitis in the Taiwanese population. | Ko CL et al. | — | 2022 | → |
| Genome-wide polygenic score to predict chronic kidney disease across ancestries. | Khan A et al. | — | 2022 | → |
| GWAS of depression in 4,520 individuals from the Russian population highlights the role of <i>MAGI2</i> (<i>S-SCAM</i>) in the gut-brain axis. | Pinakhina D et al. | — | 2022 | → |
| How dysregulation of the immune system promotes diabetes mellitus and cardiovascular risk complications. | Girard D et al. | — | 2022 | → |
| Human genotype-to-phenotype predictions: Boosting accuracy with nonlinear models. | Medvedev A et al. | — | 2022 | → |
| Implementation of individualised polygenic risk score analysis: a test case of a family of four. | Corpas M et al. | — | 2022 | → |
| Improving the computation efficiency of polygenic risk score modeling: faster in Julia. | Faucon A et al. | — | 2022 | → |
| Incident cardiovascular disease risk prediction using extensive oximetry patterns. | Cade BE | — | 2022 | → |
| Including APOL1 alleles and ancestry adjustments improve a genome-wide polygenic CKD score. | Yu Z et al. | — | 2022 | → |
| Including diverse and admixed populations in genetic epidemiology research. | Caliebe A et al. | — | 2022 | → |
| Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts. | Kingdom R et al. | — | 2022 | → |
| Incorporating family history of disease improves polygenic risk scores in diverse populations. | Hujoel MLA et al. | — | 2022 | → |
| Incremental Value of Polygenic Risk Scores in Primary Prevention of Coronary Heart Disease: A Review. | Groenendyk JW et al. | — | 2022 | → |
| Interaction of background genetic risk, psychotropic medications, and primary angle closure glaucoma in the UK Biobank. | Sekimitsu S et al. | — | 2022 | → |
| International Section for Early Career and Training. | Georgakis MK et al. | — | 2022 | → |
| Lacking social support is associated with structural divergences in hippocampus-default network co-variation patterns. | Zajner C et al. | — | 2022 | → |
| Large-scale genome-wide association study of coronary artery disease in genetically diverse populations. | Tcheandjieu C et al. | — | 2022 | → |
| Leveraging genetic discoveries for sleep to determine causal relationships with common complex traits. | Sonti S et al. | — | 2022 | → |
| Leveraging Population Genomics to Enhance Preventive Cardio-Oncology. | Gaziano L et al. | — | 2022 | → |
| Leveraging Therapy-Specific Polygenic Risk Scores to Predict Restrictive Lung Defects in Childhood Cancer Survivors. | Im C et al. | — | 2022 | → |
| Lipid droplets as the genetic nexus of fatty liver. | Mann JP et al. | — | 2022 | → |
| LLM-PBC: Logic Learning Machine-Based Explainable Rules Accurately Stratify the Genetic Risk of Primary Biliary Cholangitis. | Gerussi A et al. | — | 2022 | → |
| Long-Lived Individuals Show a Lower Burden of Variants Predisposing to Age-Related Diseases and a Higher Polygenic Longevity Score. | Torres GG et al. | — | 2022 | → |
| Metabolic and proteomic signatures of type 2 diabetes subtypes in an Arab population. | Zaghlool SB et al. | — | 2022 | → |
| Metabolic Effects of the Waist-To-Hip Ratio Associated Locus <i>GRB14/COBLL1</i> Are Related to <i>GRB14</i> Expression in Adipose Tissue. | Sun C et al. | — | 2022 | → |
| Methylation risk scores are associated with a collection of phenotypes within electronic health record systems. | Thompson M et al. | — | 2022 | → |
| Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes. | Akbari P et al. | — | 2022 | → |
| Multidimensional Early Prediction Score for Drug-Resistant Epilepsy. | Kang KW et al. | — | 2022 | → |
| Multiethnic polygenic risk prediction in diverse populations through transfer learning. | Tian P et al. | — | 2022 | → |
| Nasal DNA methylation at three CpG sites predicts childhood allergic disease. | van Breugel M et al. | — | 2022 | → |
| Neurocognitive trajectory and proteomic signature of inherited risk for Alzheimer's disease. | Paranjpe MD et al. | — | 2022 | → |
| New Cardiovascular Risk Assessment Techniques for Primary Prevention: JACC Review Topic of the Week. | Verma KP et al. | — | 2022 | → |
| New Horizons: the value of UK Biobank to research on endocrine and metabolic disorders. | Bešević J et al. | — | 2022 | → |
| Novel genetic associations with five aesthetic facial traits: A genome-wide association study in the Chinese population. | Wang P et al. | — | 2022 | → |
| On the Verge of Precision Medicine in Diabetes. | Li JH et al. | — | 2022 | → |
| Pathway-Specific Polygenic Risk Scores Identify Obstructive Sleep Apnea-Related Pathways Differentially Moderating Genetic Susceptibility to Coronary Artery Disease. | Goodman MO et al. | — | 2022 | → |
| Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study. | Smith HS et al. | — | 2022 | → |
| Patient and provider perspectives on polygenic risk scores: implications for clinical reporting and utilization. | Lewis ACF et al. | — | 2022 | → |
| Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia, Bipolar Disorder, and Depression Among Adults in the US Veterans Affairs Health Care System. | Bigdeli TB et al. | — | 2022 | → |
| Pharmacogenetics of Cardiovascular Prevention in Diabetes: From Precision Medicine to Identification of Novel Targets. | Morieri ML et al. | — | 2022 | → |
| Pharmacogenomics polygenic risk score for drug response prediction using PRS-PGx methods. | Zhai S et al. | — | 2022 | → |
| Plasma fingerprint of free fatty acids and their correlations with the traditional cardiac biomarkers in patients with type 2 diabetes complicated by coronary heart disease. | Hu T et al. | — | 2022 | → |
| Polygenic coronary artery disease association with brain atrophy in the cognitively impaired. | de Silva E et al. | — | 2022 | → |
| Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors. | Liu H et al. | — | 2022 | → |
| Polygenic risk for type 2 diabetes, lifestyle, metabolic health, and cardiovascular disease: a prospective UK Biobank study. | Yun JS et al. | — | 2022 | → |
| Polygenic risk prediction and SNCA haplotype analysis in a Latino Parkinson's disease cohort. | Loesch DP et al. | — | 2022 | → |
| Polygenic risk score and age: an extra help in the cardiovascular prevention of the young? | Temporelli PL | — | 2022 | → |
| Polygenic Risk Score and Statin Relative Risk Reduction for Primary Prevention of Myocardial Infarction in a Real-World Population. | Oni-Orisan A et al. | — | 2022 | → |
| Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease. | King A et al. | — | 2022 | → |
| Polygenic Risk Score Predicts Sudden Death in Patients With Coronary Disease and Preserved Systolic Function. | Sandhu RK et al. | — | 2022 | → |
| Polygenic risk scores: An overview from bench to bedside for personalised medicine. | Cross B et al. | — | 2022 | → |
| Polygenic Risk Scores for Cardiovascular Disease: A Scientific Statement From the American Heart Association. | O'Sullivan JW et al. | — | 2022 | → |
| Polygenic risk scores for cardiovascular diseases and type 2 diabetes. | Wong CK et al. | — | 2022 | → |
| Polygenic risk scores in epilepsy. | Heyne HO | — | 2022 | → |
| Polygenic Score Assessed in Young Adulthood and Onset of Subclinical Atherosclerosis and Coronary Heart Disease. | Emdin CA et al. | — | 2022 | → |
| Polygenic Scores in Psychiatry: On the Road From Discovery to Implementation. | Lewis CM et al. | — | 2022 | → |
| Prediction of Coronary Artery Disease and Major Adverse Cardiovascular Events Using Clinical and Genetic Risk Scores for Cardiovascular Risk Factors. | Ramírez J et al. | — | 2022 | → |
| Prediction of type 2 diabetes using genome-wide polygenic risk score and metabolic profiles: A machine learning analysis of population-based 10-year prospective cohort study. | Hahn SJ et al. | — | 2022 | → |
| Predictive Utility of a Validated Polygenic Risk Score for Long-Term Risk of Coronary Heart Disease in Young and Middle-Aged Adults. | Khan SS et al. | — | 2022 | → |
| Preliminary genome wide screening identifies new variants associated with coronary artery disease in Indian population. | Bhat KG et al. | — | 2022 | → |
| Prognostication in inflammatory bowel disease. | Spencer EA et al. | — | 2022 | → |
| Proteomics and Population Biology in the Cardiovascular Health Study (CHS): design of a study with mentored access and active data sharing. | Austin TR et al. | — | 2022 | → |
| Reliability of Ancestry-specific Prostate Cancer Genetic Risk Score in Four Racial and Ethnic Populations. | Shi Z et al. | — | 2022 | → |
| Reply to: "External validation of a genetic risk score that predicts development of alcohol-related cirrhosis". | Whitfield JB et al. | — | 2022 | → |
| Risk Assessment for Hip and Knee Osteoarthritis Using Polygenic Risk Scores. | Sedaghati-Khayat B et al. | — | 2022 | → |
| Self-reported walking pace, polygenic risk scores and risk of coronary artery disease in UK biobank. | Zaccardi F et al. | — | 2022 | → |
| Statins in High Cardiovascular Risk Patients: Do Comorbidities and Characteristics Matter? | Rossini E et al. | — | 2022 | → |
| Statistical learning for sparser fine-mapped polygenic models: The prediction of LDL-cholesterol. | Maj C et al. | — | 2022 | → |
| Stroke genetics informs drug discovery and risk prediction across ancestries. | Mishra A et al. | — | 2022 | → |
| SumStatsRehab: an efficient algorithm for GWAS summary statistics assessment and restoration. | Matushyn M et al. | — | 2022 | → |
| Systematic comparison of family history and polygenic risk across 24 common diseases. | Mars N et al. | — | 2022 | → |
| Systematic Evaluation of Rheumatoid Arthritis Risk by Integrating Lifestyle Factors and Genetic Risk Scores. | Yu XH et al. | — | 2022 | → |
| Testing the generalizability of ancestry-specific polygenic risk scores to predict prostate cancer in sub-Saharan Africa. | Kim MS et al. | — | 2022 | → |
| Testing the Utility of Polygenic Risk Scores for Type 2 Diabetes and Obesity in Predicting Metabolic Changes in a Prediabetic Population: An Observational Study. | Padilla-Martinez F et al. | — | 2022 | → |
| The construction of transcriptional risk scores for breast cancer based on lightGBM and multiple omics data. | Pan J et al. | — | 2022 | → |
| The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians. | Kim YJ et al. | — | 2022 | → |
| The controversial embryo tests that promise a better baby. | Kozlov M | — | 2022 | → |
| The effect of heteroscedasticity on the prediction efficiency of genome-wide polygenic score for body mass index. | Baek EJ et al. | — | 2022 | → |
| The False Dawn of Polygenic Risk Scores for Human Disease Prediction. | Herzig AF et al. | — | 2022 | → |
| The Genetic Architecture of the Etiology of Lower Extremity Peripheral Artery Disease: Current Knowledge and Future Challenges in the Era of Genomic Medicine. | Butnariu LI et al. | — | 2022 | → |
| The genetic interactions between non-alcoholic fatty liver disease and cardiovascular diseases. | Chew NWS et al. | — | 2022 | → |
| The impact of Mendelian sleep and circadian genetic variants in a population setting. | Weedon MN et al. | — | 2022 | → |
| The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores. | Page ML et al. | — | 2022 | → |
| The Road Toward Clinical Implementation of Polygenic Risk Scores for Coronary Artery Disease. | Arvanitis M et al. | — | 2022 | → |
| The time to PREPARE is over; the time to improve diversity in asthma studies is now. | Williams LK | — | 2022 | → |
| Toward Precision Medicine-Is Genetic Risk Prediction Ready for Prime Time in Osteoarthritis? | Yau MS et al. | — | 2022 | → |
| Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals. | Huang QQ et al. | — | 2022 | → |
| Use of Polygenic Risk Scores for Coronary Heart Disease in Ancestrally Diverse Populations. | Dikilitas O et al. | — | 2022 | → |
| Using Polygenic Risk Scores Related to Complex Traits to Predict Production Performance in Cross-Breeding of Yeast. | Dai Y et al. | — | 2022 | → |
| Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research. | Lopez-Pineda A et al. | — | 2022 | → |
| Validation of Polygenic Risk Scores for Coronary Heart Disease in a Middle Eastern Cohort Using Whole Genome Sequencing. | Saad M et al. | — | 2022 | → |