GWAS summary statistics

Converging evidence of positive selection at height-associated loci in Europe

The paper reassesses selection on height using GWAS and allele frequency data, finding positive selection at height-associated loci in Europe.

COLSTATS: an interactive web platform for systematic colocalization of GWAS and QTL summary statistics

COLSTATS provides a web platform for colocalizing GWAS and QTL summary statistics to identify shared genetic determinants.

Three Open Questions in Polygenic Score Portability

This paper investigates the portability of polygenic scores across genetic and demographic differences, identifying three key gaps in understanding.

Joint Modeling of Effect Sizes for Two Correlated Traits: Characterizing Trait Properties to Enhance Polygenic Risk Prediction

This study introduces PleioSDPR, a method that improves polygenic risk prediction by jointly modeling genetic effects across correlated traits, showing significant accuracy gains in real trait applications.

Disentangling Type 2 Diabetes Risk and Comorbidity Using Genomic Structural Equation Modeling

This study uses genomic structural equation modeling to identify latent genetic factors underlying T2D and its comorbidities, showing distinct risk profiles and broader associations with complications.

Mapping disease loci to biological processes via joint pleiotropic and epigenomic partitioning

This paper introduces J-PEP, a method that clusters GWAS loci using pleiotropy and epigenomics, improving biological interpretation of disease associations.

A Deep Ensemble Encoder Network Method for Improved Polygenic Risk Score Prediction

This paper introduces DEEN, a deep learning method that improves polygenic risk score prediction by modeling both linear and non-linear SNP effects, showing better performance on UK Biobank and All of Us datasets.

A novel age-informative polygenic score improves predictive ability for kidney function and kidney function decline

The paper develops an age-informative polygenic score for kidney function and shows it improves prediction of eGFR and decline compared to an age-agnostic score.

Improving Polygenic Score Prediction for Underrepresented Groups Through Transfer Learning

This paper improves polygenic score prediction for underrepresented groups using transfer learning methods implemented in the GPTL R-package, showing better performance than traditional approaches.

Evaluating ANO6 as a Parkinson's disease candidate gene: a human genetic investigation of common and rare variant associations

This study investigates ANO6's role in Parkinson's disease by analyzing common and rare variants across large datasets, finding no strong genetic association.

Substance use disorders exhibit unique and disorder specific genetic associations with externalizing and internalizing psychopathology

This study identifies genetic relationships between substance use disorders and externalizing/internalizing psychopathology, finding that internalizing contributes uniquely to SUD risk.

Causal Relationships Between Soluble ST2, Heart Failure, and Sepsis: Bidirectional and Multivariable Mendelian Randomization Analyses

This paper uses Mendelian randomization to investigate causal relationships between soluble ST2, heart failure, and sepsis, finding no evidence of direct causation.

Neuropeptide S as a potential risk locus for migraine in the Portuguese population

The paper conducts a GWAS in the Portuguese population to identify migraine risk loci, finding a novel association with the NPS gene and highlighting potential therapeutic targets.

Utility of polygenic risk scores in diagnostic genetic testing for dilated cardiomyopathy

This study evaluates polygenic risk scores (PRS) in dilated cardiomyopathy (DCM) patients, finding higher PRS in those without monogenic variants and TTN-related DCM, suggesting polygenic contributions.

Genome-wide association study, network analysis, and reverse genetics pinpoint novel genes associated with seedling root growth variation of Arabidopsis thaliana under drought

This study identifies 68 genes associated with drought tolerance in Arabidopsis thaliana seedlings using GWAS and validates their roles through reverse genetics.

Choice of phenotype scale is critical in biobank-based GxE tests

The paper shows that phenotype scale choice affects GxE signals in biobank data, with log scaling revealing meaningful effects and explaining a significant portion of PGSxSex interactions.

Preventing premature deaths through polygenic risk scores

This study evaluates how polygenic risk scores can optimize screening programs to reduce premature deaths by tailoring screening ages based on genetic risk.

Multi-trait and multi-ancestry genetic analysis of comorbid lung diseases and traits improves genetic discovery and polygenic risk prediction

This paper improves genetic discovery and polygenic risk prediction for respiratory diseases by analyzing multiple traits and ancestries, identifying novel loci and developing a new polygenic risk score method.

Evaluating Genetic-Based Disease Prediction Approaches Through Simulation

This study evaluates genetic disease prediction methods using simulations, finding random forests most accurate, followed by logistic regression and naive Bayes, while neural networks performed worse.

Per-allele disease and complex trait effect sizes are predominantly African MAF-dependent in European populations

The paper shows that per-allele effect sizes of genetic variants in European populations are better predicted by African MAF than European MAF.

Causal evidence linking chronic pain genetics to late-onset asthma via the nervous system

The paper identifies a causal link between chronic pain genetics and late-onset asthma through the nervous system using genome-wide association and Mendelian randomization analyses.

The impact of ancestry on performance of type 1 diabetes genetic risk scores: high discrimination performance is maintained in African ancestry populations, but population specific thresholds may improve risk prediction

Challenges to case-only analysis for gene-environment interaction detection using polygenic risk scores: model assumptions and biases in large biobanks

This study investigates challenges in case-only analysis using polygenic risk scores for gene-environment interaction detection, showing false positives due to model misspecification and collider bias in large biobanks.

Palette polygenic risk score framework improves risk prediction by capturing clinical heterogeneity of type 2 diabetes

The paper introduces a polygenic risk score framework that improves type 2 diabetes risk prediction by accounting for clinical subtypes and pathway-specific contributions.

Automating the Clinical Interpretation of LDLR, APOB, and PCSK9 Variants: A Web-Based Platform for FH Diagnosis

A Shiny web platform pulls together gnomAD frequencies, UK Biobank LDL-C associations, AlphaMissense, LDLR deep mutational scanning and ClinVar/HGMD to draft ACMG/AMP evidence for familial hypercholesterolemia variants.

Exploring the genetic overlap between attention-deficit/hyperactivity disorder (ADHD) and migraine

This study identifies shared genetic variants between ADHD and migraine, showing pleiotropy and associations with neuroimmune and neurodevelopmental pathways.

Fine-mapping a genome-wide meta-analysis of 98,374 migraine cases identifies 181 sets of candidate causal variants

This study fine-maps genome-wide association study results for migraine, identifying 181 credible sets of candidate causal variants across 102 regions.

COMPREHENSIVE GENETIC INVESTIGATION REVEALS HETEROGENEOUS PATHWAYS TO OBSTRUCTIVE SLEEP APNEA

This study identifies 14 genome-wide significant loci for obstructive sleep apnea, including three independent of BMI, and highlights genetic pathways involving obesity, neurological, and craniofacial factors.

Inferring toxicant susceptibility in global populations from gene-environment interactions involving the Aryl Hydrocarbon Receptor

The paper predicts gene-environment interactions for toxicant susceptibility across global populations using AHR gene variation and 1000 Genomes Project data.

Genetics-informed bidirectional mapping of glycemic traits and brain phenotypes

This study identifies bidirectional genetic links between glycemic traits and brain phenotypes using Mendelian randomization and validates findings in UK Biobank data.