Genetic Associations and Epidemiology

The paper evaluates non-linearities in phenotypic similarity versus genetic relatedness by analyzing three processes: imperfect tagging, assortative mating, and shared environments, using UK Biobank and All of Us data.

The paper evaluates the impact of sample overlap in GWAS meta-analysis across different significance thresholds and shows minimal impact when overlap is small.

The paper uses polygenic scores to associate psychiatric disorder risk with laboratory tests, identifying physiological biomarkers across different ancestries.

GEMS associates GWAS variants with cell types using sequence-to-function predictions, revealing cell-type-specific mechanisms for disease risk variants.

This study uses Mendelian randomisation to show that longer telomeres reduce fibrotic lung disease risk, independent of telomerase genes, while other ageing measures do not.

The paper conducts a genome-wide association study in a Chilean admixed population to identify genetic loci associated with COVID-19 severity and susceptibility, finding four new loci.

CaPri is a Bayesian Mendelian randomization framework that jointly estimates causal and pleiotropic effects, showing robust performance across varying pleiotropy proportions and real data applications.

This paper introduces GenSep, a framework to quantify genetic separability of disease subtypes, showing current PRSs fall short of theoretical limits.

This paper introduces Seal, an AI framework that models gene regulation and variant effects in the developing human brain across multiple regions, cell types, and stages, identifying regulatory mechanisms linked to neuropsychiatric diseases.

The paper identifies genetic and biological pathways linking executive functioning and externalizing behaviors using genome-wide association study data.

This paper investigates the genetic link between retinal arteriolar tortuosity and blood pressure, identifying potential shared genetic loci and suggesting retinal microvasculature as a candidate window for inner-ear microvasculature studies.

The paper decomposes polygenic risk of coronary artery disease into distinct biological processes using latent factor decomposition of genetic variants.

This study evaluates polygenic score prediction accuracy and cross-ancestry portability across 3,994 PGSs in diverse populations, identifying factors affecting their performance and equity.

The paper uses polygenic risk scores to analyze genetic contributions to neurodegenerative diseases across brain cell types, finding shared and disease-specific genetic risks.

The paper identifies ancestry-specific functional variants of HBZ associated with increased risk of triple-negative breast cancer in African-ancestry populations.

The paper identifies rare and low-frequency genetic variants associated with obesity severity, finding that variant burden correlates with BMI across different obesity categories.

The paper evaluates how expression predictions from sequence models correlate with genetic associations in Alzheimer's disease risk loci, finding modest but significant relationships that suggest their utility as complementary evidence.

The paper shows rare genetic variants influence participation in cognitive tests of the UK Biobank, affecting the representativeness of the cohort and power of association studies.

The paper introduces Cerberus, an improved regulatory sequence model using bidirectional state space blocks, achieving higher accuracy and efficiency than existing models like Borzoi.

This study identifies genetic associations between human brain shape (globularity) and brain-related traits, revealing links to cerebellar volume, ventricular size, and metabolic pathways.

drugMR uses multi-omics data to identify potential drug targets and adverse effects by integrating GWAS and pQTL statistics with various statistical methods.

This paper introduces a TWAS method that adjusts for predicted expression uncertainty, improving type I error control and effect size estimation compared to traditional approaches.

The paper shows that higher African ancestry in Brazilian infants is linked to increased fecal myeloperoxidase levels, suggesting genetic factors influence immune response to enteric infections.

The paper imputes fluid intelligence scores in a large cohort, reducing ascertainment bias and increasing power to detect genetic associations with common and rare variants.

This paper introduces scTAPAS, a method to reconstruct donor genotypes from scRNA-seq data, enabling eQTL and HLA-TCR analysis without conventional genotyping.

The paper identifies a bias in local genetic correlation estimation due to significance filtering and proposes a correction method with a diagnostic tool.

The paper develops a GPU-accelerated polygenic scoring method using an autonomous coding agent, achieving speedups on synthetic data but showing discrepancies on real data.

The paper identifies shared genetic architectures between psychiatric and non-psychiatric disorders, revealing novel psychiatric risk loci through cross-trait analyses.

This paper investigates the shared genetic architecture of psychiatric and insulin resistance conditions using multivariate GWAS and identifies potential biological mechanisms and drug candidates.