Genetic Epidemiology - 2020

84 articles | Last updated: 2025-12-03 14:12:56
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Multi‐tissue transcriptome‐wide association studies
Statistical methods with exhaustive search in the identification of gene–gene interactions for colorectal cancer
A unified linear mixed model for familial relatedness and population structure in genetic association studies
Novel score test to increase power in association test by integrating external controls
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Rare variants association testing for a binary outcome when pooling individual level data from heterogeneous studies European and African ancestries
An exploration of genetic association tests for disease risk and age at onset
On the application, reporting, and sharing of in silico simulations for genetic studies
MF‐TOWmuT: Testing an optimally weighted combination of common and rare variants with multiple traits using family data
JEM: A joint test to estimate the effect of multiple genetic variants on DNA methylation
Variation in cancer risk among families with genetic susceptibility
Detecting rare copy number variants from Illumina genotyping arrays with the CamCNV pipeline: Segmentation of <i>z</i>‐scores improves detection and reliability
Statistical approaches for meta‐analysis of genetic mutation prevalence
Innovative approach to identify multigenomic and environmental interactions associated with birth defects in family‐based hybrid designs
Mendelian randomization analysis with survival outcomes
Integrative genomic analysis in African American children with asthma finds three novel loci associated with lung function African Americans; Study of African Americans, Asthma, Genes, and Environment; locus-specific geneti
TWO‐SIGMA: A novel two‐component single cell model‐based association method for single‐cell RNA‐seq data
Set‐based genetic association and interaction tests for survival outcomes based on weighted V statistics
locStra: Fast analysis of regional/global stratification in whole‐genome sequencing studies
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Loci identified by a genome‐wide association study of carotid artery stenosis in the eMERGE network
Fine‐mapping and QTL tissue‐sharing information improves the reliability of causal gene identification
A comprehensive genetic and epidemiological association analysis of vitamin D with common diseases/traits in the UK Biobank 326,409 UK Biobank (UKBB) Europeans.
Integration of multiomic annotation data to prioritize and characterize inflammation and immune‐related risk variants in squamous cell lung cancer
Exploring gene–gene interaction in family‐based data with an unsupervised machine learning method: EPISFA
Efficient gene–environment interaction tests for large biobank‐scale sequencing studies
Detecting X‐linked common and rare variant effects in family‐based sequencing studies
Supervariants identification for breast cancer
Dissecting the genetic overlap of smoking behaviors, lung cancer, and chronic obstructive pulmonary disease: A focus on nicotinic receptors and nicotine metabolizing enzyme
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Joint testing of donor and recipient genetic matching scores and recipient genotype has robust power for finding genes associated with transplant outcomes genetic ancestry distance
Estimating the effects of copy‐number variants on intelligence using hierarchical Bayesian models
Polygenic modelling of treatment effect heterogeneity
A framework for pathway knowledge driven prioritization in genome‐wide association studies
Incorporating multiple sets of eQTL weights into gene‐by‐environment interaction analysis identifies novel susceptibility loci for pancreatic cancer
Chances and challenges of machine learning‐based disease classification in genetic association studies illustrated on age‐related macular degeneration
Evaluating shared genetic influences on nonsyndromic cleft lip/palate and oropharyngeal neoplasms European ancestry
Penalized variance components for association of multiple genes with traits
An enhanced machine learning tool for <i>cis</i>‐eQTL mapping with regularization and confounder adjustments
A general framework for integrative analysis of incomplete multiomics data
A principal component approach to improve association testing with polygenic risk scores
SNP‐HLA Reference Consortium (SHLARC): HLA and SNP data sharing for promoting MHC‐centric analyses in genomics African-ancestry Populations in the Americas; African American models; population-matching
Statistical considerations for the analysis of massively parallel reporter assays data
Leveraging existing GWAS summary data of genetically correlated and uncorrelated traits to improve power for a new GWAS
Colorectal cancer risk based on extended family history and body mass index
Shared genomic segment analysis with equivalence testing
Evaluation of population stratification adjustment using genome‐wide or exonic variants
Truncated tests for combining evidence of summary statistics Finnish population
Group analysis of distance matrices
Validating the doubly weighted genetic risk score for the prediction of type 2 diabetes in the Lifelines and Estonian Biobank cohorts
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Sequencing and imputation in GWAS: Cost‐effective strategies to increase power and genomic coverage across diverse populations European population isolates (Sardinians and Finns)
Practical implementation of frailty models in Mendelian risk prediction
Assessing exposure effects on gene expression
Power loss due to testing association between covariate‐adjusted traits and genetic variants
The 2020 Annual Meeting of the International Genetic Epidemiology Society
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A fast and powerful eQTL weighted method to detect genes associated with complex trait using GWAS summary data
Penalized models for analysis of multiple mediators
A comparison of robust Mendelian randomization methods using summary data
Gene‐based and pathway‐based testing for rare‐variant association in affected sib pairs
Identifying blood pressure loci whose effects are modulated by multiple lifestyle exposures
Intermediate confounding in trio relationships: The importance of complete data in effect size estimation
Effective SNP ranking improves the performance of eQTL mapping
Investigation of prediction accuracy and the impact of sample size, ancestry, and tissue in transcriptome‐wide association studies ancestry; across ancestries; ethnicities; multiple ethnicities
The effects of misspecification of the mediator and outcome in mediation analysis
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Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status
Convex combination sequence kernel association test for rare‐variant studies
Quantifying posterior effect size distribution of susceptibility loci by common summary statistics
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Genome‐wide interaction study of single‐nucleotide polymorphisms and alcohol consumption on blood pressure: The Ansan and Ansung study of the Korean Genome and Epidemiology Study (KoGES)
Power calculation for the general two‐sample Mendelian randomization analysis
Incorporating external information to improve sparse signal detection in rare‐variant gene‐set‐based analyses
PANDA: Prioritization of autism‐genes using network‐based deep‐learning approach
The impact on estimations of genetic correlations by the use of super‐normal, unscreened, and family‐history screened controls in genome wide case–control studies
Genetic effect estimates in case‐control studies when a continuous variable is omitted from the model
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Robust kernel association testing (RobKAT)
At the interface
Polygenic risk scores outperform machine learning methods in predicting coronary artery disease status