GWAS summary statistics

The paper introduces pgBoost, a framework that improves linking regulatory variants to genes by integrating single-cell multiome data and genomic distance, showing higher enrichment than existing methods.

This paper examines how polygenic risk scores for adiposity relate to early type 2 diabetes onset in South Asians and Europeans, finding that BMI mediates this relationship more fully in Europeans than in South Asians.

Haplomics is a Snakemake pipeline for haplotype-based association analysis in GWAS loci, identifying significant associations in a multi-omics study.

This study evaluates LLMs for gene-to-phenotype mapping, finding that models with dedicated databases achieve >80% accuracy and provide supporting literature.

This paper introduces an MR framework to estimate causal effects of offspring traits on parental health using parental genotypes as proxies for offspring genotypes.

GXwasR provides tools for sex-aware genetic analysis in GWAS and XWAS, enabling sex-differentiated effects and polygenic risk scores.

This paper introduces PHBC to estimate pleiotropic heritability across diseases, finding that about half of common disease heritability is shared with other diseases.

The paper identifies disease-specific risk variants and shared effector genes in allergic diseases using functional fine-mapping and expression quantitative trait loci.

This paper introduces polygenic component scores derived from genomICA components to link brain imaging genetics to diverse phenotypes, showing they predict physical and cognitive traits but not mental health outcomes.

This paper integrates Bayesian genome-wide polygenic scores into FRAX to improve fracture risk prediction in postmenopausal women, showing enhanced accuracy and reclassification.

This paper introduces solveblock, a software tool that enables FDR-controlled conditional independence analysis using GWAS summary statistics, leading to additional discoveries in British individuals.

This study compares phase-free and phase-based local ancestry inference methods, finding phase-free methods provide more accurate results despite lower phase quality.

The paper develops methods to detect non-linear genetic interactions using visible neural networks and applies them to identify significant epistasis pairs in inflammatory bowel disease.

OriGene identifies therapeutic targets by integrating diverse data modalities and outperforms human experts and models in accuracy and robustness.

This study confirms an association between HLA-II region variants and TB susceptibility in admixed South African samples using the LAAA model.

The paper applies the MR-Horse method to reduce selection bias in GWAS of disease progression by accounting for genetic correlation and pleiotropy, showing reduced bias and controlled type 1 error rates.

This study identifies polygenic modifiers of expressivity in telomere biology disorders by showing how common and rare genetic variants interact to influence clinical variability.

This study evaluates deep-learning methods for improving polygenic scores, finding limited benefits due to confounding effects from linkage disequilibrium.

The paper identifies MDA5 variants that protect against autoimmune diseases but increase IBD risk, showing a trade-off between antiviral activity and autoimmunity.

This paper introduces a supervised principal components analysis method for variable selection in high-dimensional datasets, showing it reduces false discovery rates and improves statistical inference.

This study identifies genetic loci associated with seed protein composition in pea using GWAS and QTL mapping, revealing overlapping regions and candidate genes involved in protein biosynthesis and modification.

This study compares old and new local ancestry inference methods in Hispanic/Latino populations using HCHS/SOL data, finding high similarity but some regional discrepancies.

This study uses Mendelian randomization to investigate the causal relationship between PCSK9 inhibitors and bone diseases, finding mixed effects on osteoporosis, osteoarthritis, and rheumatoid arthritis.

This study conducts GWAS in a large Korean cohort, identifying 301 novel loci and highlighting East Asian-specific genetic associations for 36 traits.

The paper identifies a novel genetic locus OSBPL11 associated with vitamin D levels and cardiometabolic health in African populations through genome-wide analysis.

The paper identifies sex-specific genetic loci associated with memory, executive functioning, and language performance in older adults through genome-wide meta-analyses.

The paper develops a polygenic score for dizygotic twinning, showing it explains 1.6% of liability variance and is linked to fertility outcomes and genetic correlations with related conditions.

This paper benchmarks 20 methods for mapping trait-cell type associations by integrating GWAS and scRNA-seq data, finding CATCH to be the most robust approach.

The paper analyzes how SNP heritability estimates are affected by admixture and directional LD, showing biases in random-effect estimators and implications for GWAS and polygenic prediction.