GWAS / association mapping

This study identifies new candidate genes and tissues associated with resistance to a natural toxin in Drosophila species through genome-wide association and transcriptome analyses.

The paper identifies allele-specific alternative polyadenylation events in Alzheimer's disease brains and links them to genetic risk loci for neurodevelopmental and neurodegenerative disorders.

The paper identifies RNA-protein modules linked to anthracycline-induced cardiotoxicity and atrial fibrillation risk through multi-omics integration.

The paper identifies mitochondrial SNPs interacting with Klotho variants to influence diabetes risk, showing sex-dependent effects using the NuMIT method.

This study meta-analyzes lipoedema cohorts from the UK and Spain with UK Biobank data, identifying overlapping susceptibility loci and rare SNPs associated with the disorder.

The paper re-evaluates genome-wide significance thresholds for low-frequency variants in autism, identifying novel variants and their functional roles.

The paper examines how polygenic risk for suicide attempts interacts with alcohol use disorder and childhood adversity to influence suicide attempt risk.

The paper introduces a new GWAS method to identify gene-gene associations linked to antimicrobial resistance in Staphylococcus aureus, revealing genetic coalitions beyond known resistance genes.

This study identifies genetic loci associated with Meniere's disease and links them to inner ear development and retinoic acid metabolism.

The paper introduces co-expression-based models to improve eQTL predictions and identifies novel schizophrenia-associated genes using brain RNA-seq data.

This study performs genome-wide association meta-analyses on optic nerve structure biomarkers, identifying novel loci and potential drug targets independent of intraocular pressure.

This study identifies 1,294 genomic regions and 961 effector genes associated with externalizing disorders, revealing neural mechanisms and polygenic predictors of variance in these conditions.

This study identifies 14 susceptibility loci for Ewing sarcoma through a genome-wide association meta-analysis, revealing genetic interactions with somatic EWSR1::FLI1 fusions.

This study uses Mendelian randomization to identify circulating proteins associated with cardiovascular traits in African-ancestry populations and finds four proteins uniquely linked to lipids and heart diseases in this group.

This study uses whole-genome sequencing in 672,976 individuals to show rare and common variants converge in genetic associations for anthropometric traits, with ultra-rare variants explaining less than 10% of heritability.

This study identifies genetic loci associated with migration distance and links them to neurodevelopmental genes, cognition, and economic growth.

The paper identifies gene-microbe interactions that modulate host gene expression in the human intestine and links them to IBD risk.

The paper investigates genetic correlations and causal relationships between 249 circulating metabolites and 10 psychiatric conditions, identifying 1,100 trait pairings with potential clinical implications.

The paper identifies gene-statin interactions that enhance statin effectiveness in lowering LDL cholesterol using genome-wide analyses in the UK Biobank and All of Us.

This study evaluates how reference genome choice affects RAD-seq analyses in Petunia and Calibrachoa, finding that closely related genomes yield consistent results while distantly related ones reduce SNP recovery but not evolutionary inference.

This study identifies PAD-associated SNPs with stronger associations with surgical intervention than premature onset using UK Biobank data.

The paper uses a federated approach to conditionally analyze genetic variants across biobanks, identifying LDL-C lowering effects of DNAJC13 haploinsufficiency and LDLR regulation.

The paper maps cis- and trans-eQTLs in blood samples to infer gene regulatory networks and prioritize trait-relevant pathways.

The paper investigates missing regulation by comparing trait-associated variants in cattle and pigs to human genetics, finding increased regulatory variant ascertainment in livestock.

The paper performs a transcriptome-wide association study on human lifespan and validates findings in Drosophila, identifying COASY as a gene involved in ageing across species.

This study identifies genetic variants associated with cognitive domains like memory and attention using GWAS in the Long Life Family Study, finding domain-specific genetic architecture.

The paper constructs a genetic reference panel for the Quebec population using whole-genome sequencing and GWAS to improve phenotype-genotype association discovery.

This study identifies Pita2a as a major gene conferring broad-spectrum neck blast resistance in rice using GWAS and functional validation.

The paper examines how monoaminergic genetic variation, cortical structure, and trauma interact to influence emotional vulnerability using a large cohort dataset.

The paper reconstructs IgG-specific N-glycan profiles from total plasma N-glycome data, identifies known and novel loci associated with IgG N-glycosylation, and enables meta-analyses without new samples.