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 2021-03-01 to 2025-03-01.)
ArticleCitations
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Revealing genomic heterogeneity and commonality: A penalized integrative analysis approach accounting for the adjacency structure of measurements58
Bayesian Effect Size Ranking to Prioritise Genetic Risk Variants in Common Diseases for Follow‐Up Studies38
A Brief History behind the journal Genetic Epidemiology and the International Genetic Epidemiology Society22
Identifying somatic fingerprints of cancers defined by germline and environmental risk factors18
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Evaluation of saliva as a source of accurate whole‐genome and microbiome sequencing data17
Are trait‐associated genes clustered together in a gene network?17
Disentangling the effects of traits with shared clustered genetic predictors using multivariable Mendelian randomization17
Ethical, Legal, and Social Implications of Gene‐Environment Interaction Research16
New proposal to address mediation analysis interrogations by using genetic variants as instrumental variables15
The influence of unmeasured confounding on the MR Steiger approach15
Adaptive Bayesian variable clustering via structural learning of breast cancer data15
Comparison of genetic risk prediction models to improve prediction of coronary heart disease in two large cohorts of the MONICA/KORA study14
Gene‐level association analysis of ordinal traits with functional ordinal logistic regressions12
Ravages: An R package for the simulation and analysis of rare variants in multicategory phenotypes12
A novel Mendelian randomization method with binary risk factor and outcome10
Deconvolution analysis of cell‐type expression from bulk tissues by integrating with single‐cell expression reference9
PSAP‐Genomic‐Regions: A Method Leveraging Population Data to Prioritize Coding and Non‐Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis9
A Bayesian hierarchically structured prior for gene‐based association testing with multiple traits in genome‐wide association studies9
Powerful Rare‐Variant Association Analysis of Secondary Phenotypes8
Genome‐wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals8
Using parent‐offspring pairs and trios to estimate indirect genetic effects in education8
Statistics to prioritize rare variants in family‐based sequencing studies with disease subtypes8
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A gene‐based association test of interactions for maternal–fetal genotypes identifies genes associated with nonsyndromic congenital heart defects7
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Sparse group variable selection for gene–environment interactions in the longitudinal study7
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Meta‐analysis of breast cancer risk for individuals with PALB2 pathogenic variants7
Inverse probability weighting is an effective method to address selection bias during the analysis of high dimensional data7
The Translational Machine: A novel machine‐learning approach to illuminate complex genetic architectures6
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Haplotype reconstruction for genetically complex regions with ambiguous genotype calls: Illustration by the KIR gene region5
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Phenotypic variance partitioning by transcriptomic gene expression levels and environmental variables for anthropometric traits using GTEx data4
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Assisted differential network analysis for gene expression data4
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Including diverse and admixed populations in genetic epidemiology research3
Bias and mean squared error in Mendelian randomization with invalid instrumental variables3
Inference of causal metabolite networks in the presence of invalid instrumental variables with GWAS summary data3
Adjusting for collider bias in genetic association studies using instrumental variable methods3
Testing and estimation of X‐chromosome SNP effects: Impact of model assumptions3
DYNATE: Localizing rare‐variant association regions via multiple testing embedded in an aggregation tree3
Estimating Causal Effects on a Disease Progression Trait Using Bivariate Mendelian Randomisation3
A Novel One‐Sample Mendelian Randomization Approach for Count‐Type Outcomes That Is Robust to Correlated and Uncorrelated Pleiotropic Effects3
Statistical power of transcriptome‐wide association studies3
The eigen higher criticism and eigen Berk–Jones tests for multiple trait association studies based on GWAS summary statistics3
Polygenic hazard score models for the prediction of Alzheimer's free survival using the lasso for Cox's proportional hazards model3
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 strain3
FAT4 identified as a potential modifier of orofacial cleft laterality3
MR‐BOIL: Causal inference in one‐sample Mendelian randomization for binary outcome with integrated likelihood method3
Benchmarking statistical methods for analyzing parent–child dyads in genetic association studies2
Exploring polygenic‐environment and residual‐environment interactions for depressive symptoms within the UK Biobank2
Mitigating type 1 error inflation and power loss in GxE PRS: Genotype–environment interaction in polygenic risk score models2
Comparing Ancestry Standardization Approaches for a Transancestry Colorectal Cancer Polygenic Risk Score2
Fast and accurate recurrent event analysis for genome‐wide association studies2
The sequence kernel association test for multicategorical outcomes2
Integrative Multi‐Omics Approach for Improving Causal Gene Identification2
A two‐sample robust Bayesian Mendelian Randomization method accounting for linkage disequilibrium and idiosyncratic pleiotropy with applications to the COVID‐19 outcomes2
Shared genetic risk between major orofacial cleft phenotypes in an African population2
Multitrait transcriptome‐wide association study (TWAS) tests1
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Multivariable MR Can Mitigate Bias in Two‐Sample MR Using Covariable‐Adjusted Summary Associations1
Gene−Air Pollution Interaction and Diversity of Genetic Sampling: The Southern California Children's Health Study1
Study of effect modifiers of genetically predicted CETP reduction1
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Improved two‐step testing of genome‐wide gene–environment interactions1
Interpreting disease genome‐wide association studies and polygenetic risk scores given eligibility and study design considerations1
simmrd: An open‐source tool to perform simulations in Mendelian randomization1
Fine‐Mapping the Results From Genome‐Wide Association Studies of Primary Biliary Cholangitis Using SuSiE and h2‐D21
Hierarchical joint analysis of marginal summary statistics—Part II: High‐dimensional instrumental analysis of omics data1
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Gene‐based association tests in family samples using GWAS summary statistics1
Reference‐Based Standardization Approach Stabilizing Small Batch Risk Prediction via Polygenic Score1
REHE: Fast variance components estimation for linear mixed models1
Using Family History Data to Improve the Power of Association Studies: Application to Cancer in UK Biobank1
Genetic Associations of Persistent Opioid Use After Surgery Point to OPRM1 but Not Other Opioid‐Related Loci as the Main Driver of Opioid Use Disorder1
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Statistical learning for sparser fine‐mapped polygenic models: The prediction of LDL‐cholesterol1
Refinement of a Published Gene‐Physical Activity Interaction Impacting HDL‐Cholesterol: Role of Sex and Lipoprotein Subfractions1
Genome‐wide association studies of 27 accelerometry‐derived physical activity measurements identified novel loci and genetic mechanisms1
Identifying genes associated with disease outcomes using joint sparse canonical correlation analysis—An application in renal clear cell carcinoma1
Genome‐wide pleiotropy analysis identifies novel blood pressure variants and improves its polygenic risk scores1
A fast linkage method for population GWAS cohorts with related individuals1
Mediation analysis of multiple mediators with incomplete omics data1
Secondary analyses for genome‐wide association studies using expression quantitative trait loci1
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Breast and bowel cancers diagnosed in people ‘too young to have cancer’: A blueprint for research using family and twin studies1
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Incorporating European GWAS findings improve polygenic risk prediction accuracy of breast cancer among East Asians1
Novel HLA associations with outcomes of Mycobacterium tuberculosis exposure and sarcoidosis in individuals of African ancestry using nearest‐neighbor feature selection0
Control for population stratification in genetic association studies based on GWAS summary statistics0
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Statistical methods to detect mother–father genetic interaction effects on risk of infertility: A genome‐wide approach0
ioSearch: An approach for identifying interacting multiomics biomarkers using a novel algorithm with application on breast cancer data sets0
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Sensitivity analyses gain relevance by fixing parameters observable during the empirical analyses0
Covariate adjusted inference of parent‐of‐origin effects using case–control mother–child paired multilocus genotype data0
A robust two‐sample transcriptome‐wide Mendelian randomization method integrating GWAS with multi‐tissue eQTL summary statistics0
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 levels0
Identifying genetic risk variants associated with brain volumetric phenotypes via K‐sample Ball Divergence method0
RAVAQ: An integrative pipeline from quality control to region‐based rare variant association analysis0
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Joint analysis of multiple phenotypes for extremely unbalanced case‐control association studies0
Efficient identification of trait‐associated loss‐of‐function variants in the UK Biobank cohort by exome‐sequencing based genotype imputation0
Data‐adaptive and pathway‐based tests for association studies between somatic mutations and germline variations in human cancers0
Correction to “Abstracts”0
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
Statistical methods for cis‐Mendelian randomization with two‐sample summary‐level data0
A Novel Statistical Method for Unmasking Sex‐Specific Genomics Signatures in Complex Traits0
Collider bias from selecting disease samples distorts causal inferences0
Causation and familial confounding as explanations for the associations of polygenic risk scores with breast cancer: Evidence from innovative ICE FALCON and ICE CRISTAL analyses0
InTACT: An adaptive and powerful framework for joint‐tissue transcriptome‐wide association studies0
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Genetically Predicted Gene Expression Effects on Changes in Red Blood Cell and Plasma Polyunsaturated Fatty Acids0
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Statistical methods for Mendelian models with multiple genes and cancers0
A Mixed‐Effect Kernel Machine Regression Model for Integrative Analysis of Alpha Diversity in Microbiome Studies0
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Penalized mediation models for multivariate data0
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Methods for large‐scale single mediator hypothesis testing: Possible choices and comparisons0
Sparse prediction informed by genetic annotations using the logit normal prior for Bayesian regression tree ensembles0
Use of genetic correlations to examine selection bias0
Exploring and Accounting for Genetically Driven Effect Heterogeneity in Mendelian Randomization0
Structured testing of genetic association with mixed clinical outcomes0
Making sense of breast cancer risk estimates0
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Bias correction for inverse variance weighting Mendelian randomization0
Post hoc power is not informative0
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Interaction between genetics and smoking in determining risk of coronary artery diseases0
Identifying Disease Associated Multi‐Omics Network With Mixed Graphical Models Based on Markov Random Field Model0
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Integrating external controls in case–control studies improves power for rare‐variant tests0
Effect of case and control definitions on genome‐wide association study (GWAS) findings0
Analysis of parent‐of‐origin effects for secondary phenotypes using case–control mother–child pair data0
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Precisely modeling zero‐inflated count phenotype for rare variants0
Gene–environment interaction analysis via deep learning0
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Multivariate analysis of a missense variant in CREBRF reveals associations with measures of adiposity in people of Polynesian ancestries0
OSCAA: A two‐dimensional Gaussian mixture model for copy number variation association analysis0
Hierarchical joint analysis of marginal summary statisticsPart I: Multipopulation fine mapping and credible set construction0
RetroFun‐RVS: A Retrospective Family‐Based Framework for Rare Variant Analysis Incorporating Functional Annotations0
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Gene‐level association analysis of bivariate ordinal traits with functional regressions0
Mendelian randomization in the multivariate general linear model framework0
Deep learning identified genetic variants for COVID‐19‐related mortality among 28,097 affected cases in UK Biobank0
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Taking population stratification into account by local permutations in rare‐variant association studies on small samples0
Penalized linear mixed models for structured genetic data0
A large‐scale transcriptome‐wide association study (TWAS) of 10 blood cell phenotypes reveals complexities of TWAS fine‐mapping0
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Comparison of regmed and BayesNetty for exploring causal models with many variables0
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Using clustering of genetic variants in Mendelian randomization to interrogate the causal pathways underlying multimorbidity from a common risk factor0
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Assumptions about frequency‐dependent architectures of complex traits bias measures of functional enrichment0
An exploration of linkage fine‐mapping on sequences from case‐control studies0
Random effect based tests for multinomial logistic regression in genetic association studies0
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Clarifying the causes of consistent and inconsistent findings in genetics0
Weak and pleiotropy robust sex‐stratified Mendelian randomization in the one sample and two sample settings0
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Robust estimates of heritable coronary disease risk in individuals with type 2 diabetes0
Enhancing Gene Expression Predictions Using Deep Learning and Functional Annotations0
Investigating the prediction of CpG methylation levels from SNP genotype data to help elucidate relationships between methylation, gene expression and complex traits0
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RoPE: A robust profile likelihood method for differential gene expression analysis0
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Block coordinate descent algorithm improves variable selection and estimation in error‐in‐variables regression0
Transferability of Single‐ and Cross‐Tissue Transcriptome Imputation Models Across Ancestry Groups0
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Exploring pleiotropy in Mendelian randomisation analyses: What are genetic variants associated with ‘cigarette smoking initiation’ really capturing?0
Genetic heterogeneity: Challenges, impacts, and methods through an associative lens0
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 Stu0
Interval estimate of causal effect in summary data based Mendelian randomization in the presence of winner's curse0
A novel application of data‐consistent inversion to overcome spurious inference in genome‐wide association studies0
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Selection bias when inferring the effect direction in Mendelian randomization0
An empirical Bayes approach to improving population‐specific genetic association estimation by leveraging cross‐population data0
Bayesian multivariant fine mapping using the Laplace prior0
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Unveiling challenges in Mendelian randomization for gene–environment interaction0
Genome‐wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes0
Evaluation of polygenic risk scores to differentiate between type 1 and type 2 diabetes0
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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
A novel transcriptional risk score for risk prediction of complex human diseases0
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A Bayesian hierarchical model for improving measurement of 5mC and 5hmC levels: Toward revealing associations between phenotypes and methylation states0
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General Kernel Machine Methods for Multi‐Omics Integration and Genome‐Wide Association Testing With Related Individuals0
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Gene‐based analysis of bi‐variate survival traits via functional regressions with applications to eye diseases0
Additional article of this Special Issue was previously published in another issue of Genetic Epidemiology. That is:0
Caution against examining the role of reverse causality in Mendelian Randomization0
The X factor: A robust and powerful approach to X‐chromosome‐inclusive whole‐genome association studies0
Multi‐marker genetic association and interaction tests with interval‐censored survival outcomes0
GWASBrewer: An R Package for Simulating Realistic GWAS Summary Statistics0
Limitation of permutation‐based differential correlation analysis0
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