GWAS summary statistics

TLS-Tractor: A transfer learning framework for incorporating summary-statistics into local ancestry-aware GWAS in admixed populations

TLS-Tractor integrates external GWAS summary statistics with individual-level data for ancestry-aware association analysis in admixed populations, improving power and calibration.

A multi-ancestry polygenic risk score for body mass index predicts longitudinal weight change

This paper develops a multi-ancestry polygenic risk score for BMI that predicts longitudinal weight change and shows strong associations across diverse genetic ancestries.

Widely used GWAS methods can be poorly suited to SNP-level localization under diffuse polygenic architecture in livestock

This study shows that common GWAS methods can produce misleading associations in livestock with polygenic architecture, highlighting the need for methods that control long-range LD spillover.

Investigating the Causal Relationship between Neuroticism and Alzheimer's Disease Using Mendelian Randomization and the Mediating Role of Modifiable Risk Factors

This study uses Mendelian randomization and mediation analysis to show that neuroticism's link to Alzheimer's disease is mediated by modifiable factors like depression, hypertension, and alcohol consumption, rather than being causal.

Dissecting the Genetic Link Between Insulin Resistance and Coronary Heart Disease: A Multi-Trait GWAS and Proteomic-Metabolomic Mediation Analysis

This paper identifies a proteomic and metabolomic pathway linking insulin resistance to coronary heart disease through genetic analysis and mediation modeling.

A systematic analysis of IBD GWAS loci identifies most probable causal genes impacting intestinal epithelial functions

This paper identifies causal genes in IBD GWAS loci by combining genetic, genomic, and functional data, finding that IRF6 enhances and IRF8 suppresses antiviral responses in intestinal epithelial cells.

Common schizophrenia heritability concentrates in an evolutionarily young, brain-regulatory subset of fine-mapped credible-set variants

The paper identifies a young, brain-regulatory subset of schizophrenia risk variants that concentrate heritability after accounting for age, frequency, and selection signals.

The omnicausal model reveals the highly polyfactorial nature of complex diseases

The paper introduces the omnicausal model to assess how phenome-wide risk factors collectively explain causality in complex diseases, showing they explain more variance than known risk factors.

Large-scale analysis demonstrates the influence of CYP2C19 genotype on specific SSRI side effects

The paper analyzes the impact of CYP2C19 genotype on SSRI side effects and discontinuation rates in a large sample of individuals.

An interpretable omnigenic neural network architecture for the human genome

The paper introduces an interpretable neural network architecture for genomic prediction, outperforming existing methods in disease risk prediction and capturing non-linear genetic interactions.

Metabolic Gating and the Evolution of Human Cognitive Plasticity: A Comparative Genomic Analysis

The paper identifies a conserved metabolic and genetic architecture linked to cognitive plasticity and psychiatric conditions, showing that extreme cognitive abilities and schizophrenia share a common genomic basis governed by metabolic constraints.

A module-based approach for post-omics, post-GWAS network-based gene classification

The paper introduces ModGenePlexus, a network-based gene classification method that improves disease gene discovery by decomposing gene lists into modules and combining module-specific classifiers.

Reclassification of Genetic Variants in Patients with Hypertrophic Cardiomyopathy from the Sarcomeric Human Cardiomyopathy Registry (SHaRe)

The paper reclassifies genetic variants in HCM patients using a large registry, finding 10% of variants were reclassified, with most VUS unlikely to be causal.

Triglyceride Polygenic Score Identifies Differential Bleeding and Cardiovascular Risk with Aspirin in Primary Prevention

This paper finds that a triglyceride-related polygenic score modifies aspirin's effects on bleeding and cardiovascular events in older adults, with different outcomes based on genetic risk profiles.

Meta-analysis of genome-wide association studies of doxorubicin-induced arrhythmia identifies MMP16 and KCTD15 as risk loci

This study identifies genetic risk loci for doxorubicin-induced arrhythmia through GWAS meta-analysis and validates their functional relevance in human and zebrafish models.

When Does Reaction Norm GWAS Discover Plasticity? The Residual Channel in Environmental Index-Based Genetic Dissection

The paper shows that using climate-derived indices in GWAS to detect phenotypic plasticity is flawed, as the index's correlation with environmental means limits the ability to detect plasticity-specific genetic variation.

Cross-Ancestry Polygenic Risk Scores Enhance Alzheimer's Disease Risk Prediction in Multiethnic Cohorts

This paper evaluates cross-ancestry polygenic risk scores (PRS) for Alzheimer's disease across multi-ethnic populations, finding improved predictive accuracy in non-European groups.

The genetic architecture of fibromyalgia across 2.5 million individuals

This study identifies 26 risk loci for fibromyalgia through a genome-wide association analysis of 2.5 million individuals, revealing genetic links to neural functions and chronic pain disorders.

The Genetics of Fibromyalgia and its Relationships to Psychiatric and Medical Traits

This study identifies genetic loci associated with fibromyalgia and finds strong genetic correlations with psychiatric and medical traits.

Genetic association meta-analysis is susceptible to confounding by between-study cryptic relatedness

This paper shows that meta-analysis of GWAS can be biased by cryptic relatedness between studies, especially in family-based datasets, and recommends avoiding such analyses.

Mapping genetic convergence across brain structure, mental health, and cardiometabolic disease

This study investigates genetic overlaps between psychiatric disorders, cardiometabolic diseases, and brain structure to understand shared and distinct genetic pathways contributing to comorbidity.

Enhancing Missense Variant Classification in Predicted Intrinsically Disordered Regions

The paper enhances missense variant classification in intrinsically disordered regions by integrating IDR-specific features with existing predictors, significantly improving PR-AUC scores.

Controls-Only Quality Control Metric from Early GWAS Can Attenuate Gene-Sex Interaction Signals in Contemporary Large-Scale Studies

The paper introduces SPADE, a QC metric that reduces bias from gene-sex interaction signals in large-scale GWAS by adjusting for sex-specific disease prevalence and preserving informative variants.

Power and linkage disequilibrium differences are major confounders of human eQTL portability across ancestries and cohorts

This paper shows that differences in power and linkage disequilibrium affect eQTL portability across ancestries and introduces a method to correct for these factors.

Gene-environment interactions contribute to blood pressure variation across global populations

The paper evaluates gene-environment interactions in blood pressure traits across diverse populations and finds they explain additional variance, though they do not improve prediction accuracy.

Improving performance of polygenic risk scores for hypertension across two ancestry groups.

This paper compares two Bayesian methods for polygenic risk scores (PRS) for hypertension across two ancestry groups, finding improved performance with updated LD panels and functional annotations, but not equitable results between groups.

An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers

The paper benchmarks missense pathogenicity predictors on cancer drivers and provides a per-gene calibration map to improve their performance in somatic variant interpretation.

Leveraging the genetics of human face shape boosts the discovery of orofacial cleft risk loci

This study uses a pleiotropy-informed GWAS method to identify new orofacial cleft risk loci by leveraging genetic associations with facial shape.

Genomic and transcriptomic insights into antipsychotic-induced changes in total cholesterol and body mass index in a multi-ancestry cohort of the US veterans

The paper conducts a GWAS on antipsychotic-induced changes in total cholesterol and BMI in a multi-ancestry cohort, identifying genetic loci and pathways associated with these metabolic effects.

Drivers of systemic male-female allele frequency divergence in humans

The paper identifies twelve genes with consistent sex differences in allele frequencies across three studies and proposes hypotheses for the mechanisms driving these differences.