GWAS summary statistics

A TWAS method calibrated for the uncertainty of predicted expression

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.

D-plus: Beyond the D-statistic -- Accurate Detection and Characterization of Introgression Despite Among-Lineage Rate Variation

D-plus improves introgression detection by addressing rate heterogeneity and ghost lineages, re-analyzing Jaltomata data to challenge prior interpretations.

NEK1 autophosphorylation is disrupted by amyotrophic lateral sclerosis-associated missense variants: activity biomarkers and structural insights

Kinase-dead controls, XIC quantification and phosphospecific antibodies establish pSer14, pThr156 and pSer418 as NEK1 autophosphorylation sites; a pThr156 assay shows ALS missense variants differ, with R261C reducing it most.

Linkage disequilibrium moderates how evolving genetic background shapes variant-level architecture

The paper develops a model of linkage disequilibrium evolution to show how genetic background and selection strength influence variant-level architecture across populations.

Sex differences in genetic liability to modifiable Alzheimer's disease risk factors

This paper investigates sex differences in genetic liability to modifiable Alzheimer's disease risk factors using polygenic risk scores and Mendelian randomization, finding limited and inconsistent sex-specific associations.

Imputation of fluid intelligence scores reduces ascertainment bias and increases power for analyses of common and rare variants

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.

Genetic support for an adverse effect of calcium channel blockers on the human thoracic aorta

This study uses Mendelian randomization to assess the causal role of CACNA1C, a target of calcium channel blockers, on thoracic aortic aneurysm and dissection, finding lower risk with higher aortic expression.

Significance filtering induces denominator selection bias in local genetic correlation: closed-form characterisation, a gate-aware correction, and an applicability diagnostic

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

Phenotypes of ultra-rare variant carriers benchmark variant effect scores

The paper benchmarks variant effect scores using UK Biobank data on ultra-rare variant carriers, showing coding and splicing scores better predict protein abundance and traits than transcriptional regulation models.

Leveraging Shared Genetic Architecture Between Psychiatric and Other Medical Disorders Increases Power and Reveals Novel Psychiatric Risk Loci

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

Polygenic risk scores for hypertensive disorders of pregnancy and later-life cardiovascular disease in women

This paper investigates if polygenic risk scores for hypertensive disorders of pregnancy are associated with later-life cardiovascular disease outcomes in women.

snpXplorer: haplotype-block representation of GWAS signals for integrated variant and cross-trait interpretation

The multivariate genetic architecture of psychiatric and insulin resistance multimorbidity

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

Interpreting Convolutional Neural Networks in Population Genetics

This study investigates how convolutional neural networks in population genetics implicitly compute summary statistics and reveals their ability to efficiently approximate long-range linkage disequilibrium.

Multi-omics fine-mapping uncovers a pleiotropic intestinal enhancer variant linking PMAIP1 regulation to pig growth and fatness

This study uses multi-omics fine-mapping to identify a pleiotropic intestinal enhancer variant linked to pig growth and fatness through PMAIP1 regulation.

Predicted Effector Gene Aggregation, Standards and Unified Schema (PEGASUS): A Community Framework for Effector Gene Reporting

PEGASUS defines a community reporting standard for GWAS predicted effector genes: a metadata record, a full locus-by-gene evidence matrix, and a derived author-prioritised gene list.

Factors underlying creativity show distinct genetic architecture and genetic correlations with psychiatric disorders

This study identifies two distinct genetic factors underlying creativity, showing different genetic correlations with education and psychiatric disorders.

Disorder-specific and shared genetic architecture underlying schizophrenia and bipolar disorder

This paper decomposes the genetic architecture of schizophrenia and bipolar disorder into shared and disorder-specific components, revealing distinct biological pathways and associations with intermediate traits.

Human genetics implicates a BACH2-NRF2 axis in fetal hemoglobin activation

This study identifies a BACH2-NRF2 axis regulating fetal hemoglobin activation through genetic and functional analyses in a large multi-ancestry cohort.

Intelligence and the Big Five personality traits share a genetic and biological basis

This study finds that intelligence and Big Five personality traits share substantial genetic and biological overlap, with 90% of genetic variants influencing personality traits also affecting intelligence.

Sum-h2, enabling genetic discovery for deep learning-derived phenotypes through a fast evaluation framework and arena of performance

The paper introduces sum-h2, a fast framework for evaluating genetic discovery from deep learning-derived phenotypes using heritability measures, and establishes a Genetic Discovery Arena for benchmarking.

MaveMD: A functional data resource for genomic medicine

MaveMD provides a clinical interface for MAVE data to classify variants of uncertain significance and improve genetic medicine outcomes.

Identifying genetic variants causal for multiple long-term conditions: informing opportunities for intervention and prevention

This study identifies genetic variants causal for multiple long-term conditions, revealing shared biological pathways and potential drug targets while highlighting adverse effects of interventions.

Evaluating Diabetes Drug Targets for Vascular Dementia Prevention Using Drug Target Mendelian Randomisation

This study uses Mendelian randomisation to assess if diabetes drug targets affect vascular dementia risk, finding no strong evidence but a suggestive protective effect for DPP4 inhibition.

Dissecting shared genetic susceptibility between gastroesophageal reflux disease and psychiatric disorders beyond body mass index

This study identifies shared genetic factors between GERD and psychiatric disorders, showing stronger links with internalizing disorders than with BMI.

Large language model-based bibliometric evaluation of population descriptors in human genetics

This study evaluates adherence to NASEM recommendations on population descriptors in GWAS papers using a large language model-based toolkit, finding improvements over time but limited impact post-report publication.

Adult Patient Perspectives on Psychiatric Polygenic Risk Scores

This study explores adult perspectives on psychiatric polygenic risk scores through interviews, highlighting both potential benefits and concerns about their use.

Clinical history shapes the predictive value of polygenic risk

The paper develops and validates polygenic risk scores (PRS) for 150 diseases and mortality using UK Biobank and FinnGen data, showing genetic information provides the largest predictive gains for certain diseases but not others.

Genetic architecture of immune-mediated thrombotic thrombocytopenic purpura in Han Chinese individuals

This study identifies two genetic loci associated with TTP in Han Chinese individuals, revealing structural variants in HLA-DRB1 that influence autoantigen presentation.

BRIDGE-AD reveals Alzheimer's disease effectors through interpretable large-scale omics integration

BRIDGE-AD integrates multimodal AD datasets to prioritize disease effectors, identifying 19 functional clusters and validating SCARB2 as a novel candidate.