OOIR: Observatory of International Research

Papers

(The median citation count of Genetic Epidemiology is 1. 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 2020-03-01 to 2024-03-01.)

Article	Citations
A comparison of robust Mendelian randomization methods using summary data	259
A principal component approach to improve association testing with polygenic risk scores	53
Bias correction for inverse variance weighting Mendelian randomization	40
Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status	31
The X factor: A robust and powerful approach to X‐chromosome‐inclusive whole‐genome association studies	27
Sequencing and imputation in GWAS: Cost‐effective strategies to increase power and genomic coverage across diverse populations	27
Statistical methods for cis‐Mendelian randomization with two‐sample summary‐level data	26
Fine‐mapping and QTL tissue‐sharing information improves the reliability of causal gene identification	25
A comprehensive genetic and epidemiological association analysis of vitamin D with common diseases/traits in the UK Biobank	23
Investigation of prediction accuracy and the impact of sample size, ancestry, and tissue in transcriptome‐wide association studies	17
Efficient gene–environment interaction tests for large biobank‐scale sequencing studies	15
SNP‐HLA Reference Consortium (SHLARC): HLA and SNP data sharing for promoting MHC‐centric analyses in genomics	15
Mendelian randomisation with coarsened exposures	14
Intermediate confounding in trio relationships: The importance of complete data in effect size estimation	14
Caution against examining the role of reverse causality in Mendelian Randomization	13
FAT4 identified as a potential modifier of orofacial cleft laterality	12
Testing and estimation of X‐chromosome SNP effects: Impact of model assumptions	11
Chances and challenges of machine learning‐based disease classification in genetic association studies illustrated on age‐related macular degeneration	10
Post hoc power is not informative	10
Including diverse and admixed populations in genetic epidemiology research	10
TWO‐SIGMA: A novel two‐component single cell model‐based association method for single‐cell RNA‐seq data	10
Multitrait transcriptome‐wide association study (TWAS) tests	9
Penalized models for analysis of multiple mediators	9
A robust two‐sample transcriptome‐wide Mendelian randomization method integrating GWAS with multi‐tissue eQTL summary statistics	9
Novel score test to increase power in association test by integrating external controls	9

A fast and powerful eQTL weighted method to detect genes associated with complex trait using GWAS summary data	9
A general framework for integrative analysis of incomplete multiomics data	9
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 strain	8
Truncated tests for combining evidence of summary statistics	8
Detecting rare copy number variants from Illumina genotyping arrays with the CamCNV pipeline: Segmentation of z‐scores improves detection and reliability	8
Genome‐wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals	8
Integration of multiomic annotation data to prioritize and characterize inflammation and immune‐related risk variants in squamous cell lung cancer	7
Multi‐tissue transcriptome‐wide association studies	7
Disentangling the effects of traits with shared clustered genetic predictors using multivariable Mendelian randomization	7
Joint testing of donor and recipient genetic matching scores and recipient genotype has robust power for finding genes associated with transplant outcomes	7
Incorporating European GWAS findings improve polygenic risk prediction accuracy of breast cancer among East Asians	7
A novel Mendelian randomization method with binary risk factor and outcome	7
Genome‐wide association studies of 27 accelerometry‐derived physical activity measurements identified novel loci and genetic mechanisms	7
locStra: Fast analysis of regional/global stratification in whole‐genome sequencing studies	7
Dissecting the genetic overlap of smoking behaviors, lung cancer, and chronic obstructive pulmonary disease: A focus on nicotinic receptors and nicotine metabolizing enzyme	6
Polygenic modelling of treatment effect heterogeneity	6
Genetic heterogeneity: Challenges, impacts, and methods through an associative lens	6
Supervariants identification for breast cancer	6
The influence of unmeasured confounding on the MR Steiger approach	6
Identifying blood pressure loci whose effects are modulated by multiple lifestyle exposures	6
Adjusting for collider bias in genetic association studies using instrumental variable methods	6
Comparison of genetic risk prediction models to improve prediction of coronary heart disease in two large cohorts of the MONICA/KORA study	6
Assumptions about frequency‐dependent architectures of complex traits bias measures of functional enrichment	5
Validating the doubly weighted genetic risk score for the prediction of type 2 diabetes in the Lifelines and Estonian Biobank cohorts	5
Inverse probability weighting is an effective method to address selection bias during the analysis of high dimensional data	5
Mendelian randomization analysis with survival outcomes	5
Group analysis of distance matrices	5
Evaluating shared genetic influences on nonsyndromic cleft lip/palate and oropharyngeal neoplasms	5
The effects of misspecification of the mediator and outcome in mediation analysis	5
Assessing exposure effects on gene expression	4
Block coordinate descent algorithm improves variable selection and estimation in error‐in‐variables regression	4
Detecting X‐linked common and rare variant effects in family‐based sequencing studies	4
Robust estimates of heritable coronary disease risk in individuals with type 2 diabetes	4
Genome‐wide pleiotropy analysis identifies novel blood pressure variants and improves its polygenic risk scores	4
Statistical power of transcriptome‐wide association studies	4
Integrative genomic analysis in African American children with asthma finds three novel loci associated with lung function	4
Unsupervised cluster analysis of SARS‐CoV‐2 genomes reflects its geographic progression and identifies distinct genetic subgroups of SARS‐CoV‐2 virus	4
	4
Statistical learning for sparser fine‐mapped polygenic models: The prediction of LDL‐cholesterol	4
A two‐sample robust Bayesian Mendelian Randomization method accounting for linkage disequilibrium and idiosyncratic pleiotropy with applications to the COVID‐19 outcomes	4
Loci identified by a genome‐wide association study of carotid artery stenosis in the eMERGE network	4
InTACT: An adaptive and powerful framework for joint‐tissue transcriptome‐wide association studies	4
Statistical methods with exhaustive search in the identification of gene–gene interactions for colorectal cancer	4
Genome‐wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes	4
Novel HLA associations with outcomes of Mycobacterium tuberculosis exposure and sarcoidosis in individuals of African ancestry using nearest‐neighbor feature selection	3
Evaluation of population stratification adjustment using genome‐wide or exonic variants	3
The utility of the Laplace effect size prior distribution in Bayesian fine‐mapping studies	3
Improved two‐step testing of genome‐wide gene–environment interactions	3
On the application, reporting, and sharing of in silico simulations for genetic studies	3
Statistical methods for Mendelian models with multiple genes and cancers	3

Deep learning identified genetic variants for COVID‐19‐related mortality among 28,097 affected cases in UK Biobank	3
Efficient identification of trait‐associated loss‐of‐function variants in the UK Biobank cohort by exome‐sequencing based genotype imputation	3
Exploring polygenic‐environment and residual‐environment interactions for depressive symptoms within the UK Biobank	3
Gene‐level association analysis of ordinal traits with functional ordinal logistic regressions	3
Clarifying the causes of consistent and inconsistent findings in genetics	3
Interaction between genetics and smoking in determining risk of coronary artery diseases	3
Penalized linear mixed models for structured genetic data	3
Taking population stratification into account by local permutations in rare‐variant association studies on small samples	3
The eigen higher criticism and eigen Berk–Jones tests for multiple trait association studies based on GWAS summary statistics	3
Evaluation of saliva as a source of accurate whole‐genome and microbiome sequencing data	2
Evaluation of polygenic risk scores to differentiate between type 1 and type 2 diabetes	2
A novel transcriptional risk score for risk prediction of complex human diseases	2
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 Stu	2
Practical implementation of frailty models in Mendelian risk prediction	2
	2
An exploration of genetic association tests for disease risk and age at onset	2
	2
Assisted estimation of gene expression graphical models	2
Set‐based genetic association and interaction tests for survival outcomes based on weighted V statistics	2
A large‐scale transcriptome‐wide association study (TWAS) of 10 blood cell phenotypes reveals complexities of TWAS fine‐mapping	2
Covariate adjusted inference of parent‐of‐origin effects using case–control mother–child paired multilocus genotype data	2
Penalized mediation models for multivariate data	2
Integrating external controls in case–control studies improves power for rare‐variant tests	2
Variant‐set association test for generalized linear mixed model	2
Colorectal cancer risk based on extended family history and body mass index	2
Variation in cancer risk among families with genetic susceptibility	2
Gene–environment interaction analysis via deep learning	2
Methods for large‐scale single mediator hypothesis testing: Possible choices and comparisons	2
Random effect based tests for multinomial logistic regression in genetic association studies	2
Weak and pleiotropy robust sex‐stratified Mendelian randomization in the one sample and two sample settings	2
Rare variants association testing for a binary outcome when pooling individual level data from heterogeneous studies	2
Joint analysis of multiple phenotypes for extremely unbalanced case‐control association studies	2
Effective SNP ranking improves the performance of eQTL mapping	2
Statistical approaches for meta‐analysis of genetic mutation prevalence	1
	1
Statistical considerations for the analysis of massively parallel reporter assays data	1
A Bayesian hierarchically structured prior for rare‐variant association testing	1
RoPE: A robust profile likelihood method for differential gene expression analysis	1
Mendelian randomization in the multivariate general linear model framework	1
Innovative approach to identify multigenomic and environmental interactions associated with birth defects in family‐based hybrid designs	1
Gene‐level association analysis of bivariate ordinal traits with functional regressions	1
Phenotypic variance partitioning by transcriptomic gene expression levels and environmental variables for anthropometric traits using GTEx data	1
Power loss due to testing association between covariate‐adjusted traits and genetic variants	1
Penalized variance components for association of multiple genes with traits	1
Sparse group variable selection for gene–environment interactions in the longitudinal study	1
RAVAQ: An integrative pipeline from quality control to region‐based rare variant association analysis	1
Estimating the effects of copy‐number variants on intelligence using hierarchical Bayesian models	1
A Bayesian hierarchical model for improving measurement of 5mC and 5hmC levels: Toward revealing associations between phenotypes and methylation states	1
A unified linear mixed model for familial relatedness and population structure in genetic association studies	1
A fast linkage method for population GWAS cohorts with related individuals	1
REHE: Fast variance components estimation for linear mixed models	1
MR‐BOIL: Causal inference in one‐sample Mendelian randomization for binary outcome with integrated likelihood method	1
	1
Deconvolution analysis of cell‐type expression from bulk tissues by integrating with single‐cell expression reference	1
Exploring gene–gene interaction in family‐based data with an unsupervised machine learning method: EPISFA	1
Leveraging existing GWAS summary data of genetically correlated and uncorrelated traits to improve power for a new GWAS	1
An empirical Bayes approach to improving population‐specific genetic association estimation by leveraging cross‐population data	1
A framework for pathway knowledge driven prioritization in genome‐wide association studies	1
Secondary analyses for genome‐wide association studies using expression quantitative trait loci	1
Benchmarking statistical methods for analyzing parent–child dyads in genetic association studies	1
The 2020 Annual Meeting of the International Genetic Epidemiology Society	1