GWAS summary statistics

From Language-Cognition Coupling to AI Foundations: An Evolutionary Perspective on 13,415 SNVs in 33 Language/Cognition Genes

This paper analyzes 13,415 SNVs in 33 language/cognition genes across species to identify evolutionary breakpoints and assess gene enrichment, finding language and cognition genes are not separable modules but part of an integrated system.

Learning Environment-Associated Marker Rankings with Attention-Based Graph Neural Networks

This paper introduces a graph neural network to estimate environment-associated marker rankings from crop trial data and evaluates its performance on maize datasets.

Genetic and Cellular Architecture of Breast Cancer Risk Across Ancestries

This study analyzes breast cancer GWAS across multiple ancestries, finding similar heritability and genetic correlations, and identifies shared regulatory and cellular contexts.

ECC-MR: an error-correcting-code framework for robust Mendelian randomization and pleiotropy decoding on correlated instruments

ECC-MR improves Mendelian randomization by using error-correcting code principles to handle pleiotropy and linkage disequilibrium, providing more accurate causal estimates.

Comparing Cardiac Genetic Testing Pathways: Impacts on Access, Informed Choice, and Decisional Satisfaction

This study compares two genetic testing pathways for cardiac conditions, finding higher uptake and faster access in the mainstreaming model but lower informed decision rates compared to a genetics referral model.

Genetic and multi-omic prioritization implicates the CD33-SIGLEC locus in post-traumatic stress disorder

This study identifies CD33-PTSD as a prioritized genetic association through multi-omic analyses and suggests 11 compound candidates for experimental validation.

Genomics of Educational Attainment Across 80 Years of Social and Political Transformation in Germany

The paper examines how polygenic indices for educational attainment change across birth cohorts and regions in Germany, finding stronger associations in recent cohorts and the East but weaker effects for women.

Measurement reliability bounds functional benchmarks and relocates where variant effect prediction fails

The paper benchmarks variant effect predictors using MAVE data, identifies reliability ceilings, and shows that correction improves performance in some regions but not others.

Association of polygenic risk scores with low-density lipoprotein cholesterol levels and control: findings from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL)

This study evaluates polygenic risk scores (PRS) for LDL cholesterol in a diverse Hispanic/Latino population, finding that some PRS improve prediction across subgroups but statin effectiveness varies with genetic ancestry.

Genetic analyses of blood pressure traits in 140,000 admixed adults from Mexico City

This study conducts GWAS on blood pressure traits in 140,559 admixed Mexican adults, identifying novel genetic signals and highlighting ancestry-specific heterogeneity.

Allele-Specific MicroRNA-Binding Variants at Colorectal Cancer Risk Loci in a Hispanic/Latino Population: An Integrative GWAS, All of Us, and Epigenomic Analysis

The paper identifies allele-specific miRNA-binding variants at CRC risk loci in a Hispanic/Latino population using GWAS, All of Us, and epigenomic data.

A significant enrichment that is not: spatial nulls, co-expression, and the imaging transcriptomics of EEG alpha-power genetics

EEG alpha-power genes appear enriched in cortical alpha generators under a spin test, but the effect is not band-specific and is matched by random gene sets (p_geneset = 0.33).

Integrating Genomic Annotations and Traits Dependencies for single-nucleotide polymorphisms Prioritization with Causal Concept Bottleneck Models

The paper introduces C2BM, a deep learning model that improves SNP prioritization by integrating genomic annotations and trait relationships, showing better predictions when related trait labels are available.

Multi-population genome-wide association meta-analysis of acute and chronic pancreatitis

This study performs a multi-population GWAS meta-analysis of acute and chronic pancreatitis, identifying genetic loci and potential therapeutic targets.

GeneSIS: enhancing transferability of polygenic scores with variant-level gene-by-sex interaction effects

GeneSIS improves polygenic score transferability by incorporating gene-by-sex interactions, enhancing prediction accuracy in non-European populations for 32 traits.

Lack of Evidence for Local Adaptation in Risk Tolerance: A Genetic Study in Northern Senegal.

This study investigates genetic variation associated with risk tolerance in two Senegalese populations and finds no evidence of local adaptation.

Phenotypic and genetic characterization of different modes of lifetime nicotine use in the All of Us Research Program

The paper identifies genetic risks and phenotypic differences across five nicotine use modes using GWAS in the All of Us Research Program.

Identification and evaluation of 41 risk loci for juvenile idiopathic arthritis informs precision medicine: mechanistic implications of DNA topology and an HLA-A*02:01-ERAP2 interaction

This paper identifies 41 risk loci for juvenile idiopathic arthritis, including 14 novel ones, and presents a polygenic risk score associated with age of onset, along with functional mechanisms involving DNA topology and an HLA-A*02:01-ERAP2 interaction.

TorchGWAS2: Cost-Effective Phenome- and Genome-Wide Association Testing in Related Samples

TorchGWAS2 improves genome-wide association testing in related samples by using a deterministic variance-correction algorithm, achieving faster and more powerful results across large-scale omics data.

Unravelling the genetic basis of stuttering: GWAS meta-analysis highlights link with rare speech disorders

This study conducts a GWAS meta-analysis of stuttering, identifying genetic links with speech disorders and highlighting shared genetic architecture across different ascertainment methods.

A novel unbiased Linkage Disequilibrium estimator through Random Probing

This paper introduces a new unbiased linkage disequilibrium estimator called Random Probe, which outperforms existing methods in reducing bias, especially in challenging scenarios.

Lysosomal polygenic risk score in Parkinson's disease across populations.

This study evaluates the performance of a lysosomal polygenic risk score (lyso-PRS) for Parkinson's disease risk across populations and its association with clinical outcomes in Europeans.

SPLENDID incorporates continuous genetic ancestry in biobank-scale data to improve polygenic risk prediction across diverse populations

SPLENDID improves polygenic risk prediction across diverse populations by incorporating continuous genetic ancestry without requiring discrete ancestry labels.

Improved two-stage GWAS identifies rare genetic variants associated with dermo susceptibility in the eastern oyster

This study uses a two-stage GWAS to identify rare genetic variants linked to dermo resistance in Eastern oysters, finding associations with immune response and energy metabolism genes.

Seven replicated genomic associations of myalgic encephalomyelitis/chronic fatigue syndrome: a biobank study

Targeted-learning GWAS of 1,268 UK Biobank ME/CFS cases found 176 FDR-significant variants; seven replicated in disjoint UK Biobank or All of Us cohorts.

Genome-wide association study of food liking and food preference patterns in young adults

This study conducts a GWAS of food liking in young adults, identifying 16 genome-wide significant associations across 14 traits and one food preference pattern.

Integrative Genetic and Single-Cell Analysis Reveals Macrophages as Key Mediators Linking Aging and Osteoporosis

The paper identifies macrophages as key mediators linking aging and osteoporosis using genetic and single-cell analyses, revealing TGFB1 and HNRNPUL1 as critical regulators.

The Contribution of Common and Rare Genetic Variation to Emotional and Behavioural Symptoms in Childhood and Adolescence

This study examines the genetic contributions to emotional and behavioural symptoms in childhood and adolescence using common and rare variants from two large cohorts.

Mechanistic 5'UTR Variant Scoring Expands Rare Variant Discovery in the UK Biobank

The paper introduces 5ULTRA, a machine-learning tool for annotating 5'UTR variants, identifying new gene-phenotype associations in the UK Biobank that are missed by existing methods.

Estrogen interactions with breast cancer risk variants in regulatory DNA

The paper identifies estrogen-modulated SNVs associated with breast cancer risk and shows their interaction with reproductive factors using polygenic risk scores.