GWAS summary statistics

Multi-trait Polygenic Profiling and Survival Free of Dementia and Disability: Results from the Health and Retirement Study

This study shows that adverse polygenic profiles for dementia are linked to higher risks of dementia, disability, or death in middle-aged and older adults.

Phantom genetic nurture: assortative mating accounts for most of the apparent association between parental genotypes and childhood cognitive performance

The paper introduces RAVEL, a framework to estimate genetic nurture effects by distinguishing direct and non-transmitted genetic associations in parent-offspring trios, finding assortative mating explains most apparent parental genetic influence on child cognition.

Multi-ancestry MHC-pQTL mapping reveals disease-linked HLA protein networks and shared genetic architecture

This study maps MHC-pQTL across ancestries, identifying genetic associations with plasma proteins and linking HLA genes to immune-related traits.

Rare extreme polygenic risk scores strongly indicate Alzheimer's disease risk

The paper identifies individuals with extreme polygenic risk scores (PRS) for Alzheimer's disease (AD) and shows they have significantly elevated AD risk across multiple ancestries and APOE diplotypes.

Common Variant Contributions to Neurodevelopmental Risk in Orofacial Clefts

The paper investigates whether common genetic variants contribute to neurodevelopmental risks in children with cleft lip/palate, finding no strong genetic correlation with psychiatric traits but noting independent clinical relevance of polygenic risk scores.

Shared genetic architecture between brain iron deposition and Alzheimer's disease

This study identifies shared genetic factors between brain iron deposition and Alzheimer's disease, revealing a polygenic basis and potential neuroimmune mechanisms.

FM-GPT: Bayesian fine mapping for phenome-wide transcriptome-wide association studies

FM-GPT is a Bayesian fine mapping method that identifies causal genes in phenome-wide transcriptome-wide association studies, improving accuracy and reducing false positives.

Democratizing Agentic Access to Bioinformatics and Biopharmaceutical Databases and Analyses with BioMCP-TS

BioMCP-TS provides an open-source server enabling AI agents to access and analyze biomedical databases and run analyses without complex dependencies.

Bundling Alleles Within Haplotype Blocks Improves QTL Detection Under Allelic Heterogeneity

This paper introduces a method to improve QTL detection under allelic heterogeneity by bundling haplotypes into artificial combined markers for use in existing GWAS software.

Disease progression Mendelian randomization of risk factors for kidney function decline in chronic kidney disease and the general population

This study uses Mendelian randomization to identify risk factors for kidney function decline in CKD and the general population, finding causal effects of type-2 diabetes and high TSH.

Genetic trans-effects link triglyceride-rich lipoproteins to blood pressure

The paper identifies genetic trans-effects linking triglyceride-rich lipoproteins to blood pressure using GWAS and protein expression data.

Revisiting genetic associations with educational outcomes during and after the Soviet era in Estonia

The paper examines genetic contributions to educational attainment and occupational status in Estonia during and after the Soviet era using the Estonian Biobank, finding increased genetic influence in education but not occupation.

Modeling pathway overlap increases accuracy of GWAS gene set enrichment

This paper introduces GSR, a method to adjust for pathway overlap in GWAS gene set enrichment, improving the accuracy of identifying biologically relevant pathways.

Alzheimer's Polygenic Risk Scores Are Not Interchangeable: Evidence from 1,752 Models

The paper evaluates 1,752 polygenic risk score models for Alzheimer's disease and finds significant variability in results across methods and ancestries.

Sex-specific associations between education-related genetic factors and fertility extend beyond educational attainment

The paper examines sex-specific links between education-related genetic factors and fertility, finding stronger negative associations in women and weaker or positive associations in men, independent of educational attainment.

MissenseHMM: state-based annotations for missense variants through joint modeling of pathogenicity scores

MissenseHMM annotates missense variants with states derived from joint modeling of pathogenicity scores, improving associations with clinical and experimental data.

Genetic and behavioural architecture of childhood eating behaviour and links to obesity risk

This study identifies genetic loci associated with childhood eating behaviour and shows they mediate obesity risk through distinct pathways, primarily driven by the child's own genotype.

Beyond Exons: Linking Noncoding Heritability and Polygenicity across Complex Human Traits and Disorders

The paper quantifies how heritability is distributed across genomic regions for different polygenicity levels in complex traits, showing exons contribute less and intergenic regions more in highly polygenic traits.

Pleiotropic genetic architecture linking schizophrenia and substance use disorders

This study identifies shared genetic architecture between schizophrenia and substance use disorders using GWAS and genomic methods, finding significant genetic correlations and bidirectional causal relationships.

Molecular Underpinnings of Retinal Traits Shared with Major Psychiatric Disorders

The paper identifies shared genetic variants between major psychiatric disorders and retinal traits, revealing molecular mechanisms linking retinal morphology to neurodevelopmental and neurotransmission processes.

Hypertrophic cardiomyopathy: a genome wide association meta-analysis and polygenic risk score

This paper identifies novel genetic loci for hypertrophic cardiomyopathy through GWAS and develops a polygenic risk score associated with HCM diagnosis and outcomes.

Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: an in silico approach.

This study identifies high-risk nsSNPs in TSC1 and TSC2 genes using computational tools, showing they reduce protein stability and disrupt functional sites.

Genetic Architecture and Sample Size Impact Relative Performance of Nonlinear Machine Learning and Standard Polygenic Risk Scores

This study evaluates when nonlinear machine learning methods outperform standard polygenic risk scores, finding their effectiveness depends on genetic architecture and sample size.

Within-family heritability estimates for behavioural and disease phenotypes from 500,000 sibling pairs of diverse ancestries

The paper estimates heritability for behavioural and disease traits using 500,000 sibling pairs across diverse ancestries, finding substantial genetic contributions for smoking, alcohol use, personality, and diseases like T2D and asthma.

Assessment of ATXN2 Repeat Expansion Length and Risk of ALS: A Meta-Analysis

This paper conducts a meta-analysis to determine the lower limit of ATXN2 repeat expansions associated with ALS risk, finding that ≥30 repeats define significant risk.

Progression GWAS followed by functional characterization implicates E3 ubiquitin ligase TRIM2 as a potential genetic modifier of Parkinson's Disease progression

The paper performs a GWAS on PD progression metrics and identifies TRIM2 as a genetic modifier, showing its role in regulating neurofilament light and alpha-synuclein aggregation.

Genome-wide association studies to identify shared and distinct mechanisms of fibrosis across 12 organ-systems

Constructing a Literature-Derived Database for Benchmarking Polygenic Risk Score Construction Methods with Spectral Ranking Inferences

This study constructs a literature-derived database to benchmark polygenic risk score methods using spectral ranking, identifying top and bottom performers and providing phenotype-specific insights.

Maternal and fetal HLA heterozygosity in preeclampsia: Insights from a large multi-ancestry pregnancy cohort

This study examines the association between maternal and fetal HLA heterozygosity and preeclampsia risk in a large multi-ancestry cohort, finding protective and risk associations for specific HLA loci.

Effect heterogeneity reveals complex pleiotropic effects of rare coding variants

ALLSPICE identifies heterogeneous rare variant effects across traits in gene-trait associations using summary statistics from the UK Biobank.