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 2021-06-01 to 2025-06-01.)
ArticleCitations
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Are trait‐associated genes clustered together in a gene network?74
Comparison of genetic risk prediction models to improve prediction of coronary heart disease in two large cohorts of the MONICA/KORA study39
Statistics to prioritize rare variants in family‐based sequencing studies with disease subtypes32
Gene‐level association analysis of ordinal traits with functional ordinal logistic regressions29
A gene‐based association test of interactions for maternal–fetal genotypes identifies genes associated with nonsyndromic congenital heart defects25
A Brief History behind the journal Genetic Epidemiology and the International Genetic Epidemiology Society19
Deconvolution analysis of cell‐type expression from bulk tissues by integrating with single‐cell expression reference19
Assisted differential network analysis for gene expression data18
The eigen higher criticism and eigen Berk–Jones tests for multiple trait association studies based on GWAS summary statistics17
Genome‐wide association analysis of COVID‐19 mortality risk in SARS‐CoV‐2 genomes identifies mutation in the SARS‐CoV‐2 spike protein that colocalizes with P.1 of the Brazilian strain17
Bias and mean squared error in Mendelian randomization with invalid instrumental variables17
A two‐sample robust Bayesian Mendelian Randomization method accounting for linkage disequilibrium and idiosyncratic pleiotropy with applications to the COVID‐19 outcomes12
A Novel One‐Sample Mendelian Randomization Approach for Count‐Type Outcomes That Is Robust to Correlated and Uncorrelated Pleiotropic Effects12
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Adjusting for collider bias in genetic association studies using instrumental variable methods12
Statistical power of transcriptome‐wide association studies11
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Multivariable MR Can Mitigate Bias in Two‐Sample MR Using Covariable‐Adjusted Summary Associations10
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Gene‐level association analysis of bivariate ordinal traits with functional regressions9
Causation and familial confounding as explanations for the associations of polygenic risk scores with breast cancer: Evidence from innovative ICE FALCON and ICE CRISTAL analyses9
Sensitivity analyses gain relevance by fixing parameters observable during the empirical analyses8
Genome‐wide association studies of 27 accelerometry‐derived physical activity measurements identified novel loci and genetic mechanisms8
Multivariate analysis of a missense variant in CREBRF reveals associations with measures of adiposity in people of Polynesian ancestries8
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Genome‐wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes7
Effect of case and control definitions on genome‐wide association study (GWAS) findings7
Investigating the prediction of CpG methylation levels from SNP genotype data to help elucidate relationships between methylation, gene expression and complex traits6
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Collider bias from selecting disease samples distorts causal inferences6
The X factor: A robust and powerful approach to X‐chromosome‐inclusive whole‐genome association studies5
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
Covariate adjusted inference of parent‐of‐origin effects using case–control mother–child paired multilocus genotype data5
A Mixed‐Effect Kernel Machine Regression Model for Integrative Analysis of Alpha Diversity in Microbiome Studies5
Control for population stratification in genetic association studies based on GWAS summary statistics5
Integrating external controls in case–control studies improves power for rare‐variant tests5
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Ethical, Legal, and Social Implications of Gene‐Environment Interaction Research4
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Structured testing of genetic association with mixed clinical outcomes4
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Bayesian Effect Size Ranking to Prioritise Genetic Risk Variants in Common Diseases for Follow‐Up Studies4
Novel HLA associations with outcomes of Mycobacterium tuberculosis exposure and sarcoidosis in individuals of African ancestry using nearest‐neighbor feature selection4
Methods for large‐scale single mediator hypothesis testing: Possible choices and comparisons4
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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)3
Genetic Associations of Persistent Opioid Use After Surgery Point to OPRM1 but Not Other Opioid‐Related Loci as the Main Driver of Opioid Use Disorder3
Exploring polygenic‐environment and residual‐environment interactions for depressive symptoms within the UK Biobank3
Inverse probability weighting is an effective method to address selection bias during the analysis of high dimensional data3
Parent‐of‐Origin Effects in Childhood Asthma at Seven Years of Age3
The influence of unmeasured confounding on the MR Steiger approach3
Meta‐analysis of breast cancer risk for individuals with PALB2 pathogenic variants3
Phenotypic variance partitioning by transcriptomic gene expression levels and environmental variables for anthropometric traits using GTEx data3
Genome‐wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals3
simmrd: An open‐source tool to perform simulations in Mendelian randomization2
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
Penalized mediation models for multivariate data2
General Kernel Machine Methods for Multi‐Omics Integration and Genome‐Wide Association Testing With Related Individuals2
Statistical learning for sparser fine‐mapped polygenic models: The prediction of LDL‐cholesterol2
Genome‐wide pleiotropy analysis identifies novel blood pressure variants and improves its polygenic risk scores2
Improved two‐step testing of genome‐wide gene–environment interactions2
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 Data2
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REHE: Fast variance components estimation for linear mixed models2
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Use of genetic correlations to examine selection bias2
Exome sequence association study of levels and longitudinal change of cardiovascular risk factor phenotypes in European Americans and African Americans from the Atherosclerosis Risk in Communities Stu2
Correction to “Abstracts”2
Selection bias when inferring the effect direction in Mendelian randomization1
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OSCAA: A two‐dimensional Gaussian mixture model for copy number variation association analysis1
The sequence kernel association test for multicategorical outcomes1
Genetic heterogeneity: Challenges, impacts, and methods through an associative lens1
Data‐adaptive and pathway‐based tests for association studies between somatic mutations and germline variations in human cancers1
Estimating Causal Effects on a Disease Progression Trait Using Bivariate Mendelian Randomisation1
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Random effect based tests for multinomial logistic regression in genetic association studies1
Using clustering of genetic variants in Mendelian randomization to interrogate the causal pathways underlying multimorbidity from a common risk factor1
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Sparse group variable selection for gene–environment interactions in the longitudinal study1
Fine‐Mapping the Results From Genome‐Wide Association Studies of Primary Biliary Cholangitis Using SuSiE and h2‐D21
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InTACT: An adaptive and powerful framework for joint‐tissue transcriptome‐wide association studies1
Gene−Air Pollution Interaction and Diversity of Genetic Sampling: The Southern California Children's Health Study1
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An exploration of linkage fine‐mapping on sequences from case‐control studies1
Taking population stratification into account by local permutations in rare‐variant association studies on small samples1
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Limitation of permutation‐based differential correlation analysis1
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Bias correction for inverse variance weighting Mendelian randomization1
Using parent‐offspring pairs and trios to estimate indirect genetic effects in education1
Genome‐Wide Association Studies of Down Syndrome Associated Congenital Heart Defects Suggests a Genetically Heterogeneous Risk for CHD in DS1
MR‐BOIL: Causal inference in one‐sample Mendelian randomization for binary outcome with integrated likelihood method0
Mendelian randomization in the multivariate general linear model framework0
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Identifying genes associated with disease outcomes using joint sparse canonical correlation analysis—An application in renal clear cell carcinoma0
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Joint analysis of multiple phenotypes for extremely unbalanced case‐control association studies0
RoPE: A robust profile likelihood method for differential gene expression analysis0
Statistical methods to detect mother–father genetic interaction effects on risk of infertility: A genome‐wide approach0
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Identifying Disease Associated Multi‐Omics Network With Mixed Graphical Models Based on Markov Random Field Model0
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RAVAQ: An integrative pipeline from quality control to region‐based rare variant association analysis0
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Weak and pleiotropy robust sex‐stratified Mendelian randomization in the one sample and two sample settings0
A Novel Statistical Method for Unmasking Sex‐Specific Genomics Signatures in Complex Traits0
A Bayesian hierarchically structured prior for gene‐based association testing with multiple traits in genome‐wide association studies0
Mitigating type 1 error inflation and power loss in GxE PRS: Genotype–environment interaction in polygenic risk score models0
A novel application of data‐consistent inversion to overcome spurious inference in genome‐wide association studies0
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Making sense of breast cancer risk estimates0
Powerful Rare‐Variant Association Analysis of Secondary Phenotypes0
Hierarchical joint analysis of marginal summary statistics—Part II: High‐dimensional instrumental analysis of omics data0
Three Loci Affecting Variance of Body Mass Index in African Americans and Sub‐Saharan Africans0
An empirical Bayes approach to improving population‐specific genetic association estimation by leveraging cross‐population data0
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Breast and bowel cancers diagnosed in people ‘too young to have cancer’: A blueprint for research using family and twin studies0
Clarifying the causes of consistent and inconsistent findings in genetics0
Gene‐based association tests in family samples using GWAS summary statistics0
Integrative Multi‐Omics Approach for Improving Causal Gene Identification0
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FAT4 identified as a potential modifier of orofacial cleft laterality0
Interval estimate of causal effect in summary data based Mendelian randomization in the presence of winner's curse0
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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
Robust estimates of heritable coronary disease risk in individuals with type 2 diabetes0
Testing and estimation of X‐chromosome SNP effects: Impact of model assumptions0
Unveiling challenges in Mendelian randomization for gene–environment interaction0
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Reference‐Based Standardization Approach Stabilizing Small Batch Risk Prediction via Polygenic Score0
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Interaction between genetics and smoking in determining risk of coronary artery diseases0
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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Post hoc power is not informative0
Bayesian multivariant fine mapping using the Laplace prior0
Refinement of a Published Gene‐Physical Activity Interaction Impacting HDL‐Cholesterol: Role of Sex and Lipoprotein Subfractions0
Deep learning identified genetic variants for COVID‐19‐related mortality among 28,097 affected cases in UK Biobank0
Transferability of Single‐ and Cross‐Tissue Transcriptome Imputation Models Across Ancestry Groups0
Statistical methods for Mendelian models with multiple genes and cancers0
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Evaluation of polygenic risk scores to differentiate between type 1 and type 2 diabetes0
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Haplotype reconstruction for genetically complex regions with ambiguous genotype calls: Illustration by the KIR gene region0
A fast linkage method for population GWAS cohorts with related individuals0
A large‐scale transcriptome‐wide association study (TWAS) of 10 blood cell phenotypes reveals complexities of TWAS fine‐mapping0
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Secondary analyses for genome‐wide association studies using expression quantitative trait loci0
Including diverse and admixed populations in genetic epidemiology research0
Hierarchical joint analysis of marginal summary statisticsPart I: Multipopulation fine mapping and credible set construction0
Study of effect modifiers of genetically predicted CETP reduction0
Robust use of phenotypic heterogeneity at drug target genes for mechanistic insights: Application of cis‐multivariable Mendelian randomization to GLP1R gene region0
Disentangling the effects of traits with shared clustered genetic predictors using multivariable Mendelian randomization0
Benchmarking statistical methods for analyzing parent–child dyads in genetic association studies0
Inference of causal metabolite networks in the presence of invalid instrumental variables with GWAS summary data0
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PSAP‐Genomic‐Regions: A Method Leveraging Population Data to Prioritize Coding and Non‐Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis0
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Exploring pleiotropy in Mendelian randomisation analyses: What are genetic variants associated with ‘cigarette smoking initiation’ really capturing?0
Fast and accurate recurrent event analysis for genome‐wide association studies0
GWASBrewer: An R Package for Simulating Realistic GWAS Summary Statistics0
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Exploring and Accounting for Genetically Driven Effect Heterogeneity in Mendelian Randomization0
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Identifying genetic risk variants associated with brain volumetric phenotypes via K‐sample Ball Divergence method0
A Bayesian hierarchical model for improving measurement of 5mC and 5hmC levels: Toward revealing associations between phenotypes and methylation states0
Assumptions about frequency‐dependent architectures of complex traits bias measures of functional enrichment0
DYNATE: Localizing rare‐variant association regions via multiple testing embedded in an aggregation tree0
Statistical methods for cis‐Mendelian randomization with two‐sample summary‐level data0
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RetroFun‐RVS: A Retrospective Family‐Based Framework for Rare Variant Analysis Incorporating Functional Annotations0
Enhancing Gene Expression Predictions Using Deep Learning and Functional Annotations0
ioSearch: An approach for identifying interacting multiomics biomarkers using a novel algorithm with application on breast cancer data sets0
Multi‐marker genetic association and interaction tests with interval‐censored survival outcomes0
Identifying somatic fingerprints of cancers defined by germline and environmental risk factors0
Adaptive Bayesian variable clustering via structural learning of breast cancer data0
Polygenic hazard score models for the prediction of Alzheimer's free survival using the lasso for Cox's proportional hazards model0
Analysis of parent‐of‐origin effects for secondary phenotypes using case–control mother–child pair data0
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Block coordinate descent algorithm improves variable selection and estimation in error‐in‐variables regression0
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Genetically Predicted Gene Expression Effects on Changes in Red Blood Cell and Plasma Polyunsaturated Fatty Acids0
Gene–environment interaction analysis via deep learning0
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Mediation analysis of multiple mediators with incomplete omics data0
Ravages: An R package for the simulation and analysis of rare variants in multicategory phenotypes0
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Revealing genomic heterogeneity and commonality: A penalized integrative analysis approach accounting for the adjacency structure of measurements0
Additional article of this Special Issue was previously published in another issue of Genetic Epidemiology. That is:0
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Comparing Ancestry Standardization Approaches for a Transancestry Colorectal Cancer Polygenic Risk Score0
Interpreting disease genome‐wide association studies and polygenetic risk scores given eligibility and study design considerations0
Predicting Lung Cancer in Korean Never‐Smokers With Polygenic Risk Scores0
New proposal to address mediation analysis interrogations by using genetic variants as instrumental variables0
Multitrait transcriptome‐wide association study (TWAS) tests0
Efficient identification of trait‐associated loss‐of‐function variants in the UK Biobank cohort by exome‐sequencing based genotype imputation0
Shared genetic risk between major orofacial cleft phenotypes in an African population0
Uncertainty Quantification in Epigenetic Clocks via Conformalized Quantile Regression0
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A novel transcriptional risk score for risk prediction of complex human diseases0
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