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 2022-05-01 to 2026-05-01.)
ArticleCitations
A gene‐based association test of interactions for maternal–fetal genotypes identifies genes associated with nonsyndromic congenital heart defects336
Deconvolution analysis of cell‐type expression from bulk tissues by integrating with single‐cell expression reference133
Are trait‐associated genes clustered together in a gene network?65
A Brief History behind the journal Genetic Epidemiology and the International Genetic Epidemiology Society47
Statistics to prioritize rare variants in family‐based sequencing studies with disease subtypes44
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Bias and mean squared error in Mendelian randomization with invalid instrumental variables22
MELODY: Mediation Analysis in Logistic Regression for High‐Dimensional Mediators and a Binary Outcome19
Statistical power of transcriptome‐wide association studies16
A Novel One‐Sample Mendelian Randomization Approach for Count‐Type Outcomes That Is Robust to Correlated and Uncorrelated Pleiotropic Effects15
Adjusting for collider bias in genetic association studies using instrumental variable methods15
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Gene‐level association analysis of bivariate ordinal traits with functional regressions11
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A Robust Association Test Leveraging Unknown Genetic Interactions: Application to Cystic Fibrosis Lung Disease10
Multivariable MR Can Mitigate Bias in Two‐Sample MR Using Covariable‐Adjusted Summary Associations10
Causation and familial confounding as explanations for the associations of polygenic risk scores with breast cancer: Evidence from innovative ICE FALCON and ICE CRISTAL analyses10
Integrative Harmonization of Phenotypic and Genomic Data Improves Bone Mineral Density Prediction in Multi‐Study Osteoporosis Research9
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Uncovering Ethnicity‐Specific Recessive Loci for Alzheimer's Disease in 89 Dominican Families Using Family‐Based WGS Analysis7
Sensitivity analyses gain relevance by fixing parameters observable during the empirical analyses6
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Effect of case and control definitions on genome‐wide association study (GWAS) findings6
Multivariate analysis of a missense variant in CREBRF reveals associations with measures of adiposity in people of Polynesian ancestries6
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Investigating the prediction of CpG methylation levels from SNP genotype data to help elucidate relationships between methylation, gene expression and complex traits5
A Mixed‐Effect Kernel Machine Regression Model for Integrative Analysis of Alpha Diversity in Microbiome Studies5
Structured testing of genetic association with mixed clinical outcomes5
Control for population stratification in genetic association studies based on GWAS summary statistics5
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Phenotypic variance partitioning by transcriptomic gene expression levels and environmental variables for anthropometric traits using GTEx data4
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
Correction to “Multivariable MR Can Mitigate Bias in Two‐Sample MR Using Covariable‐Adjusted Summary Associations”4
Meta‐analysis of breast cancer risk for individuals with PALB2 pathogenic variants4
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Methods for large‐scale single mediator hypothesis testing: Possible choices and comparisons4
Ethical, Legal, and Social Implications of Gene‐Environment Interaction Research4
Genome‐Wide Association Analyses in Family Triads and Dyads Following Assisted Reproductive Technology3
simmrd: An open‐source tool to perform simulations in Mendelian randomization3
Statistical learning for sparser fine‐mapped polygenic models: The prediction of LDL‐cholesterol3
Dimension Reduction Using Local Principal Components for Regression‐Based Multi‐SNP Analysis in 1000 Genomes and the Canadian Longitudinal Study on Aging (CLSA)3
Improved two‐step testing of genome‐wide gene–environment interactions3
Parent‐of‐Origin Effects in Childhood Asthma at Seven Years of Age3
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
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Comparison of regmed and BayesNetty for exploring causal models with many variables2
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Limitation of permutation‐based differential correlation analysis2
Genetic heterogeneity: Challenges, impacts, and methods through an associative lens2
Sparse group variable selection for gene–environment interactions in the longitudinal study2
Cross‐Ancestry Polygenic Prediction: Comparing Methods and Assessing Transferability Across Traits2
General Kernel Machine Methods for Multi‐Omics Integration and Genome‐Wide Association Testing With Related Individuals2
Using Family History Data to Improve the Power of Association Studies: Application to Cancer in UK Biobank2
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Bias correction for inverse variance weighting Mendelian randomization2
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The sequence kernel association test for multicategorical outcomes2
Evaluating a Mendelian Risk Prediction Model That Aggregates Across Genes and Cancers2
Use of genetic correlations to examine selection bias2
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Correction to “Abstracts”2
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
Data‐adaptive and pathway‐based tests for association studies between somatic mutations and germline variations in human cancers2
Using parent‐offspring pairs and trios to estimate indirect genetic effects in education2
Genome‐Wide Association Studies of Down Syndrome Associated Congenital Heart Defects Suggests a Genetically Heterogeneous Risk for CHD in DS1
Gene−Air Pollution Interaction and Diversity of Genetic Sampling: The Southern California Children's Health Study1
Statistical methods to detect mother–father genetic interaction effects on risk of infertility: A genome‐wide approach1
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Enhancing Gene Expression Predictions Using Deep Learning and Functional Annotations1
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An exploration of linkage fine‐mapping on sequences from case‐control studies1
Methods for Prioritizing Causal Genes in Molecular Studies of Human Disease: The State of the Art1
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Bayesian multivariant fine mapping using the Laplace prior1
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Selection bias when inferring the effect direction in Mendelian randomization1
Fine‐Mapping the Results From Genome‐Wide Association Studies of Primary Biliary Cholangitis Using SuSiE and h2‐D21
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
Using clustering of genetic variants in Mendelian randomization to interrogate the causal pathways underlying multimorbidity from a common risk factor1
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The Importance of Sensitivity Analyses for the MR Steiger Approach1
OSCAA: A two‐dimensional Gaussian mixture model for copy number variation association analysis1
A Linear Mixed Model With Measurement Error Correction (LMM‐MEC): A Method for Summary‐Data‐Based Multivariable Mendelian Randomization1
Estimating Causal Effects on a Disease Progression Trait Using Bivariate Mendelian Randomisation1
Deep learning identified genetic variants for COVID‐19‐related mortality among 28,097 affected cases in UK Biobank0
Statistical methods for Mendelian models with multiple genes and cancers0
Clarifying the causes of consistent and inconsistent findings in genetics0
Mitigating type 1 error inflation and power loss in GxE PRS: Genotype–environment interaction in polygenic risk score models0
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Mediation analysis of multiple mediators with incomplete omics data0
A novel application of data‐consistent inversion to overcome spurious inference in genome‐wide association studies0
Transferability of Single‐ and Cross‐Tissue Transcriptome Imputation Models Across Ancestry Groups0
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Including diverse and admixed populations in genetic epidemiology research0
Shared genetic risk between major orofacial cleft phenotypes in an African population0
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Exploring pleiotropy in Mendelian randomisation analyses: What are genetic variants associated with ‘cigarette smoking initiation’ really capturing?0
Gene‐based association tests in family samples using GWAS summary statistics0
Powerful Rare‐Variant Association Analysis of Secondary Phenotypes0
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Study of effect modifiers of genetically predicted CETP reduction0
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
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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
Post hoc power is not informative0
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
Making sense of breast cancer risk estimates0
Adaptive Bayesian variable clustering via structural learning of breast cancer data0
Genetically Predicted Gene Expression Effects on Changes in Red Blood Cell and Plasma Polyunsaturated Fatty Acids0
Ravages: An R package for the simulation and analysis of rare variants in multicategory phenotypes0
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Statistical methods for cis‐Mendelian randomization with two‐sample summary‐level data0
Three Loci Affecting Variance of Body Mass Index in African Americans and Sub‐Saharan Africans0
Weak and pleiotropy robust sex‐stratified Mendelian randomization in the one sample and two sample settings0
Polygenic hazard score models for the prediction of Alzheimer's free survival using the lasso for Cox's proportional hazards model0
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Evaluation of polygenic risk scores to differentiate between type 1 and type 2 diabetes0
Variant Classification Using Proteomics‐Informed Large Language Models Increases Power of Rare Variant Association Studies and Enhances Target Discovery0
Associations of Herpes Simplex Virus Type 1/2 IgG Seropositivity and Arthritis Subtypes: Integrating Cross‐Sectional Epidemiology and Genetic Association Analyses0
Hierarchical joint analysis of marginal summary statisticsPart I: Multipopulation fine mapping and credible set construction0
Hierarchical joint analysis of marginal summary statistics—Part II: High‐dimensional instrumental analysis of omics data0
Exploring Random Forest in Genetic Risk Score Construction0
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Adjustment for Genotype Imputation Uncertainty Corrects for Inflated Type I Error in Family‐Based Association Testing0
Interval estimate of causal effect in summary data based Mendelian randomization in the presence of winner's curse0
Disentangling the effects of traits with shared clustered genetic predictors using multivariable Mendelian randomization0
An empirical Bayes approach to improving population‐specific genetic association estimation by leveraging cross‐population data0
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Large‐Scale Genotype‐Based Trait Imputation With Multi‐Ancestry GWAS Data0
DYNATE: Localizing rare‐variant association regions via multiple testing embedded in an aggregation tree0
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Robust use of phenotypic heterogeneity at drug target genes for mechanistic insights: Application of cis‐multivariable Mendelian randomization to GLP1R gene region0
Predicting Lung Cancer in Korean Never‐Smokers With Polygenic Risk Scores0
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Reference‐Based Standardization Approach Stabilizing Small Batch Risk Prediction via Polygenic Score0
MR‐BOIL: Causal inference in one‐sample Mendelian randomization for binary outcome with integrated likelihood method0
RoPE: A robust profile likelihood method for differential gene expression analysis0
Revealing genomic heterogeneity and commonality: A penalized integrative analysis approach accounting for the adjacency structure of measurements0
Fast and accurate recurrent event analysis for genome‐wide association studies0
Moderating the Heritability of Body Mass Index by Age and Sex With Genomic Data0
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Exploring and Accounting for Genetically Driven Effect Heterogeneity in Mendelian Randomization0
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A Novel Statistical Method for Unmasking Sex‐Specific Genomics Signatures in Complex Traits0
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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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Identifying genes associated with disease outcomes using joint sparse canonical correlation analysis—An application in renal clear cell carcinoma0
The Complex Relationship of Genetic Ancestry With Self‐Reported Race/Ethnicity0
RetroFun‐RVS: A Retrospective Family‐Based Framework for Rare Variant Analysis Incorporating Functional Annotations0
Gene–environment interaction analysis via deep learning0
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Identifying Causal Genotype–Phenotype Relationships for Population‐Sampled Parent–Child Trios0
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Variant Prioritization by Pedigree‐Based Haplotyping0
New proposal to address mediation analysis interrogations by using genetic variants as instrumental variables0
Identity‐By‐Descent Mapping Using Multi‐Individual IBD With Genome‐Wide Multiple Testing Adjustment0
Correcting for Genomic Inflation Leads to Loss of Power in Large‐Scale Genome‐Wide Association Study Meta‐Analysis0
Archipelago Method for Variant Set Association Test Statistics0
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
A fast linkage method for population GWAS cohorts with related individuals0
Additional article of this Special Issue was previously published in another issue of Genetic Epidemiology. That is:0
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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
Integrative Multi‐Omics Approach for Improving Causal Gene Identification0
A Bayesian hierarchical model for improving measurement of 5mC and 5hmC levels: Toward revealing associations between phenotypes and methylation states0
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Sparse prediction informed by genetic annotations using the logit normal prior for Bayesian regression tree ensembles0
Efficient identification of trait‐associated loss‐of‐function variants in the UK Biobank cohort by exome‐sequencing based genotype imputation0
Uncertainty Quantification in Epigenetic Clocks via Conformalized Quantile Regression0
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Extending the Use of Mendelian Randomisation With Non‐Inherited Variants to Assess Socially Transmitted Parental Exposures Under Assortative Mating0
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GWASBrewer: An R Package for Simulating Realistic GWAS Summary Statistics0
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Analysis of parent‐of‐origin effects for secondary phenotypes using case–control mother–child pair data0
Refinement of a Published Gene‐Physical Activity Interaction Impacting HDL‐Cholesterol: Role of Sex and Lipoprotein Subfractions0
ioSearch: An approach for identifying interacting multiomics biomarkers using a novel algorithm with application on breast cancer data sets0
Identifying somatic fingerprints of cancers defined by germline and environmental risk factors0
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Haplotype reconstruction for genetically complex regions with ambiguous genotype calls: Illustration by the KIR gene region0
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