GWAS summary statistics

This paper develops and validates polygenic scores for within-family disease risk prediction, showing strong performance across ancestries and demonstrating their clinical utility in embryo screening.

The paper infers parent-of-origin effects in ~265,000 individuals using a novel method, identifying over 30 novel POEs and confirming known associations, supporting the parental conflict hypothesis.

The paper introduces MULTICLUST, a fast maximum likelihood method for clustering multiallelic genotypes to infer genetic population structure, showing comparable accuracy and efficiency to existing methods.

This study identifies 1,242 novel genetic variants and 31 novel genes associated with frailty through genome-wide association and proteomics integration.

The paper identifies 43 genetic loci that modify the effect of fish oil supplementation on dementia risk using UK Biobank data.

This study identifies 440 genes/proteins associated with atopic dermatitis severity through multi-omics analyses and highlights four with significant cross-evidence, including CEP85, which may contribute to severity via impaired phagocytosis.

This study identifies Parkinson's disease susceptibility variants in a South African cohort using GWAS and local ancestry analysis, highlighting ancestry-specific genetic risk factors.

This study evaluates SNP imputation accuracy for forensic trait prediction, finding that SNP selection, MAF, and reference panel quality impact imputation performance and trait prediction accuracy.

This study identifies distinct genetic overlaps between Alzheimer's and Parkinson's disease and metabolic markers, revealing disease-specific pathways involving lipid metabolism and synaptic processes.

This study conducts GWAS on orofacial cleft subtypes, identifying 27 genome-wide significant regions, including novel loci, and highlights genetic heterogeneity and homogeneity across subtypes.

FLOW-MR estimates causal effects of time-varying risk factors using GWAS summary statistics, revealing BMI's childhood protective effect on breast cancer and evolving impacts on stroke risk.

The paper models shared genomic and environmental influences on cognitive, language, and social traits in children, identifying distinct domains with trait-specific correlations between genetic and environmental factors.

The paper introduces a method to predict the direction of phenotypic differences between individuals using genomic data, achieving over 90% accuracy in many cases.

This study identifies genetic correlations and pleiotropic loci between atopic dermatitis and five neuropsychiatric disorders, highlighting shared inflammatory pathways and potential drug targets.

The paper investigates gene-environment interactions involving maternal exposures and orofacial cleft risk in Filipinos, identifying suggestive interactions with smoking and vitamin use.

This study uses sex-stratified GWAS and explainable AI to identify 184 genes associated with T2D subtypes and improve risk detection.

The paper analyzes the association between PGLYRP2 variants and Parkinson's disease across diverse ancestries and sexes, finding no significant sex-dependent effect for rs892145-T but a potential protective effect for rs959117-T in African American and Caribbean females.

This study identifies shared genetic loci linking schizophrenia, brain structure, insulin resistance, and inflammation through colocalization analysis.

The paper identifies 46 optic neuritis-associated genes and prioritizes omacetaxine mepesuccinate as a repurposed therapy targeting ribosomal proteins.

This study identifies genetic links between clusters of immune-mediated diseases and psychiatric disorders using genomic structural equation modeling and a new heterogeneity metric.

This paper introduces PRSFNN, a neural empirical Bayesian method for polygenic prediction that outperforms existing methods on 17 of 18 traits in the UK Biobank.

The paper shows non-planning impulsivity predicts procrastination and shares genetic overlap, with DLPFC deviations partially explaining this link.

The paper demonstrates how quantile regression can correct for subtle population stratification in genome-wide association studies using human height as an example.

This study investigates the genetic basis of physical activity across different contexts and finds that leisure-time activity has distinct genetic influences and protective health effects.

This study identifies 93 genetic loci associated with alcohol-related diseases using FinnGen data and shows polygenic risk scores can stratify risk for these diseases and related outcomes.

This paper identifies additional genetic markers influencing eye color in individuals with genotypes not matching their expected phenotype based on rs12913832.

The paper investigates the genetic overlap between educational attainment and substance use traits, finding distinct genetic patterns for cognitive and non-cognitive components of education.

This study evaluates polygenic score methods across diverse populations using summary statistics, finding that combining ancestry-aligned and European GWAS improves performance and computational efficiency.

This study uses Mendelian randomization to examine if fetal growth affects maternal cardiometabolic risk, finding no strong causal evidence.