Genetic Epidemiology

Papers
(The median citation count of Genetic Epidemiology is 0. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-08-01 to 2025-08-01.)
ArticleCitations
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Are trait‐associated genes clustered together in a gene network?89
Gene‐level association analysis of ordinal traits with functional ordinal logistic regressions36
A gene‐based association test of interactions for maternal–fetal genotypes identifies genes associated with nonsyndromic congenital heart defects35
Deconvolution analysis of cell‐type expression from bulk tissues by integrating with single‐cell expression reference29
A Brief History behind the journal Genetic Epidemiology and the International Genetic Epidemiology Society20
Statistics to prioritize rare variants in family‐based sequencing studies with disease subtypes20
Bias and mean squared error in Mendelian randomization with invalid instrumental variables19
The eigen higher criticism and eigen Berk–Jones tests for multiple trait association studies based on GWAS summary statistics13
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A two‐sample robust Bayesian Mendelian Randomization method accounting for linkage disequilibrium and idiosyncratic pleiotropy with applications to the COVID‐19 outcomes12
Statistical power of transcriptome‐wide association studies12
Adjusting for collider bias in genetic association studies using instrumental variable methods11
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A Novel One‐Sample Mendelian Randomization Approach for Count‐Type Outcomes That Is Robust to Correlated and Uncorrelated Pleiotropic Effects10
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Gene‐level association analysis of bivariate ordinal traits with functional regressions8
Causation and familial confounding as explanations for the associations of polygenic risk scores with breast cancer: Evidence from innovative ICE FALCON and ICE CRISTAL analyses8
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A Robust Association Test Leveraging Unknown Genetic Interactions: Application to Cystic Fibrosis Lung Disease7
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Sensitivity analyses gain relevance by fixing parameters observable during the empirical analyses6
Multivariable MR Can Mitigate Bias in Two‐Sample MR Using Covariable‐Adjusted Summary Associations6
Genome‐wide association studies of 27 accelerometry‐derived physical activity measurements identified novel loci and genetic mechanisms6
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Multivariate analysis of a missense variant in CREBRF reveals associations with measures of adiposity in people of Polynesian ancestries5
Integrating external controls in case–control studies improves power for rare‐variant tests5
Uncovering Ethnicity‐Specific Recessive Loci for Alzheimer's Disease in 89 Dominican Families Using Family‐Based WGS Analysis5
Genome‐wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes5
Gene‐environment interaction in type 2 diabetes in Korean cohorts: Interaction of a type 2 diabetes polygenic risk score with triglyceride and cholesterol on fasting glucose levels5
Collider bias from selecting disease samples distorts causal inferences5
Effect of case and control definitions on genome‐wide association study (GWAS) findings5
A Mixed‐Effect Kernel Machine Regression Model for Integrative Analysis of Alpha Diversity in Microbiome Studies4
Covariate adjusted inference of parent‐of‐origin effects using case–control mother–child paired multilocus genotype data4
Investigating the prediction of CpG methylation levels from SNP genotype data to help elucidate relationships between methylation, gene expression and complex traits4
Control for population stratification in genetic association studies based on GWAS summary statistics4
Structured testing of genetic association with mixed clinical outcomes4
Meta‐analysis of breast cancer risk for individuals with PALB2 pathogenic variants3
Bayesian Effect Size Ranking to Prioritise Genetic Risk Variants in Common Diseases for Follow‐Up Studies3
Genome‐Wide Association Analyses in Family Triads and Dyads Following Assisted Reproductive Technology3
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Novel HLA associations with outcomes of Mycobacterium tuberculosis exposure and sarcoidosis in individuals of African ancestry using nearest‐neighbor feature selection3
Methods for large‐scale single mediator hypothesis testing: Possible choices and comparisons3
Exploring polygenic‐environment and residual‐environment interactions for depressive symptoms within the UK Biobank3
The influence of unmeasured confounding on the MR Steiger approach3
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Ethical, Legal, and Social Implications of Gene‐Environment Interaction Research3
Phenotypic variance partitioning by transcriptomic gene expression levels and environmental variables for anthropometric traits using GTEx data3
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Genome‐wide pleiotropy analysis identifies novel blood pressure variants and improves its polygenic risk scores2
simmrd: An open‐source tool to perform simulations in Mendelian randomization2
Improved two‐step testing of genome‐wide gene–environment interactions2
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Dimension Reduction Using Local Principal Components for Regression‐Based Multi‐SNP Analysis in 1000 Genomes and the Canadian Longitudinal Study on Aging (CLSA)2
Statistical learning for sparser fine‐mapped polygenic models: The prediction of LDL‐cholesterol2
Using Family History Data to Improve the Power of Association Studies: Application to Cancer in UK Biobank2
Comparison of regmed and BayesNetty for exploring causal models with many variables2
Correction to “Abstracts”2
Parent‐of‐Origin Effects in Childhood Asthma at Seven Years of Age2
REHE: Fast variance components estimation for linear mixed models2
Use of genetic correlations to examine selection bias2
General Kernel Machine Methods for Multi‐Omics Integration and Genome‐Wide Association Testing With Related Individuals2
Genetic Associations of Persistent Opioid Use After Surgery Point to OPRM1 but Not Other Opioid‐Related Loci as the Main Driver of Opioid Use Disorder2
Fine‐Mapping the Results From Genome‐Wide Association Studies of Primary Biliary Cholangitis Using SuSiE and h2‐D21
Using clustering of genetic variants in Mendelian randomization to interrogate the causal pathways underlying multimorbidity from a common risk factor1
The sequence kernel association test for multicategorical outcomes1
Selection bias when inferring the effect direction in Mendelian randomization1
Limitation of permutation‐based differential correlation analysis1
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OSCAA: A two‐dimensional Gaussian mixture model for copy number variation association analysis1
Estimating Causal Effects on a Disease Progression Trait Using Bivariate Mendelian Randomisation1
Taking population stratification into account by local permutations in rare‐variant association studies on small samples1
Exploring Similarities and Differences Between Methods That Exploit Patterns of Local Genetic Correlation to Identify Shared Causal Loci Through Application to Genome‐Wide Association Studies of Multi1
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Random effect based tests for multinomial logistic regression in genetic association studies1
Bias correction for inverse variance weighting Mendelian randomization1
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Data‐adaptive and pathway‐based tests for association studies between somatic mutations and germline variations in human cancers1
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Penalized mediation models for multivariate data1
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Using parent‐offspring pairs and trios to estimate indirect genetic effects in education1
Sparse group variable selection for gene–environment interactions in the longitudinal study1
An exploration of linkage fine‐mapping on sequences from case‐control studies1
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Genome‐Wide Association Studies of Down Syndrome Associated Congenital Heart Defects Suggests a Genetically Heterogeneous Risk for CHD in DS1
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Sex‐Specific Association Between Polymorphisms in Estrogen Receptor Alpha Gene (ESR1) and Depression: A Genome‐Wide Association Study of All of Us and UK Biobank Data1
Genetic heterogeneity: Challenges, impacts, and methods through an associative lens1
Gene−Air Pollution Interaction and Diversity of Genetic Sampling: The Southern California Children's Health Study1
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A fast linkage method for population GWAS cohorts with related individuals0
Reference‐Based Standardization Approach Stabilizing Small Batch Risk Prediction via Polygenic Score0
Hierarchical joint analysis of marginal summary statistics—Part II: High‐dimensional instrumental analysis of omics data0
Clarifying the causes of consistent and inconsistent findings in genetics0
Integrative Multi‐Omics Approach for Improving Causal Gene Identification0
Revealing genomic heterogeneity and commonality: A penalized integrative analysis approach accounting for the adjacency structure of measurements0
Identity‐By‐Descent Mapping Using Multi‐Individual IBD With Genome‐Wide Multiple Testing Adjustment0
Robust estimates of heritable coronary disease risk in individuals with type 2 diabetes0
Joint analysis of multiple phenotypes for extremely unbalanced case‐control association studies0
Inference of causal metabolite networks in the presence of invalid instrumental variables with GWAS summary data0
Bayesian multivariant fine mapping using the Laplace prior0
Mendelian randomization in the multivariate general linear model framework0
Multi‐marker genetic association and interaction tests with interval‐censored survival outcomes0
Comparing Ancestry Standardization Approaches for a Transancestry Colorectal Cancer Polygenic Risk Score0
Enhancing Gene Expression Predictions Using Deep Learning and Functional Annotations0
PSAP‐Genomic‐Regions: A Method Leveraging Population Data to Prioritize Coding and Non‐Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis0
Transferability of Single‐ and Cross‐Tissue Transcriptome Imputation Models Across Ancestry Groups0
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Making sense of breast cancer risk estimates0
Hierarchical joint analysis of marginal summary statisticsPart I: Multipopulation fine mapping and credible set construction0
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Exploring pleiotropy in Mendelian randomisation analyses: What are genetic variants associated with ‘cigarette smoking initiation’ really capturing?0
A Bayesian hierarchically structured prior for gene‐based association testing with multiple traits in genome‐wide association studies0
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RoPE: A robust profile likelihood method for differential gene expression analysis0
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An empirical Bayes approach to improving population‐specific genetic association estimation by leveraging cross‐population data0
Genetically Predicted Gene Expression Effects on Changes in Red Blood Cell and Plasma Polyunsaturated Fatty Acids0
A Novel Statistical Method for Unmasking Sex‐Specific Genomics Signatures in Complex Traits0
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Deep learning identified genetic variants for COVID‐19‐related mortality among 28,097 affected cases in UK Biobank0
Evaluation of polygenic risk scores to differentiate between type 1 and type 2 diabetes0
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Disentangling the effects of traits with shared clustered genetic predictors using multivariable Mendelian randomization0
Post hoc power is not informative0
Polygenic hazard score models for the prediction of Alzheimer's free survival using the lasso for Cox's proportional hazards model0
Shared genetic risk between major orofacial cleft phenotypes in an African population0
Analysis of parent‐of‐origin effects for secondary phenotypes using case–control mother–child pair data0
Mediation analysis of multiple mediators with incomplete omics data0
Gene‐based association tests in family samples using GWAS summary statistics0
Statistical methods for cis‐Mendelian randomization with two‐sample summary‐level data0
Identifying genes associated with disease outcomes using joint sparse canonical correlation analysis—An application in renal clear cell carcinoma0
Study of effect modifiers of genetically predicted CETP reduction0
Three Loci Affecting Variance of Body Mass Index in African Americans and Sub‐Saharan Africans0
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Efficient identification of trait‐associated loss‐of‐function variants in the UK Biobank cohort by exome‐sequencing based genotype imputation0
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Interpreting disease genome‐wide association studies and polygenetic risk scores given eligibility and study design considerations0
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Additional article of this Special Issue was previously published in another issue of Genetic Epidemiology. That is:0
Weak and pleiotropy robust sex‐stratified Mendelian randomization in the one sample and two sample settings0
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Proteome‐wide association study using cis and trans variants and applied to blood cell and lipid‐related traits in the Women's Health Initiative study0
Sparse prediction informed by genetic annotations using the logit normal prior for Bayesian regression tree ensembles0
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Precisely modeling zero‐inflated count phenotype for rare variants0
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GWASBrewer: An R Package for Simulating Realistic GWAS Summary Statistics0
Ravages: An R package for the simulation and analysis of rare variants in multicategory phenotypes0
Powerful Rare‐Variant Association Analysis of Secondary Phenotypes0
Gene–environment interaction analysis via deep learning0
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Block coordinate descent algorithm improves variable selection and estimation in error‐in‐variables regression0
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Statistical methods for Mendelian models with multiple genes and cancers0
Haplotype reconstruction for genetically complex regions with ambiguous genotype calls: Illustration by the KIR gene region0
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Refinement of a Published Gene‐Physical Activity Interaction Impacting HDL‐Cholesterol: Role of Sex and Lipoprotein Subfractions0
Fast and accurate recurrent event analysis for genome‐wide association studies0
A novel application of data‐consistent inversion to overcome spurious inference in genome‐wide association studies0
Secondary analyses for genome‐wide association studies using expression quantitative trait loci0
Robust use of phenotypic heterogeneity at drug target genes for mechanistic insights: Application of cis‐multivariable Mendelian randomization to GLP1R gene region0
MR‐BOIL: Causal inference in one‐sample Mendelian randomization for binary outcome with integrated likelihood method0
Breast and bowel cancers diagnosed in people ‘too young to have cancer’: A blueprint for research using family and twin studies0
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Interaction between genetics and smoking in determining risk of coronary artery diseases0
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Statistical methods to detect mother–father genetic interaction effects on risk of infertility: A genome‐wide approach0
Interval estimate of causal effect in summary data based Mendelian randomization in the presence of winner's curse0
Exploring and Accounting for Genetically Driven Effect Heterogeneity in Mendelian Randomization0
Including diverse and admixed populations in genetic epidemiology research0
RAVAQ: An integrative pipeline from quality control to region‐based rare variant association analysis0
Predicting Lung Cancer in Korean Never‐Smokers With Polygenic Risk Scores0
Identifying Disease Associated Multi‐Omics Network With Mixed Graphical Models Based on Markov Random Field Model0
Unveiling challenges in Mendelian randomization for gene–environment interaction0
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Uncertainty Quantification in Epigenetic Clocks via Conformalized Quantile Regression0
A Bayesian hierarchical model for improving measurement of 5mC and 5hmC levels: Toward revealing associations between phenotypes and methylation states0
Adaptive Bayesian variable clustering via structural learning of breast cancer data0
A large‐scale transcriptome‐wide association study (TWAS) of 10 blood cell phenotypes reveals complexities of TWAS fine‐mapping0
Benchmarking statistical methods for analyzing parent–child dyads in genetic association studies0
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Identifying somatic fingerprints of cancers defined by germline and environmental risk factors0
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ioSearch: An approach for identifying interacting multiomics biomarkers using a novel algorithm with application on breast cancer data sets0
RetroFun‐RVS: A Retrospective Family‐Based Framework for Rare Variant Analysis Incorporating Functional Annotations0
DYNATE: Localizing rare‐variant association regions via multiple testing embedded in an aggregation tree0
New proposal to address mediation analysis interrogations by using genetic variants as instrumental variables0
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Mitigating type 1 error inflation and power loss in GxE PRS: Genotype–environment interaction in polygenic risk score models0
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