fine-mapping

Deep transcriptomic analysis of molecular mediators of complex traits in heterogeneous stock (HS) rats

This paper expands the RatGTEx resource with transcriptome-wide associations across 3,160 RNA-seq samples, identifying 7,473 gene-trait links and 144,876 QTLs for 22,599 genes.

Shared additive- and variance-associated genetic architecture of cardiac structure and function

The paper identifies shared and distinct genetic architectures for cardiac structure and function using UK Biobank data, revealing common variants influencing multiple chambers and phenotypic variability.

Genome-wide meta-analysis of pilonidal sinus disease and its genetic overlap with hidradenitis suppurativa, hair patterning and adiposity

This study identifies genetic risk loci for pilonidal sinus disease and finds strong genetic overlap with hidradenitis suppurativa and hair patterning, but not obesity.

Genetic and Epigenetic Landscape of Self-Identified Hispanics/Latino in All Of Us

The paper analyzes genetic variation, ancestry, and DNA methylation in Hispanic/Latino participants using long-read sequencing, identifying novel variants and phenotype associations.

Long-range chromatin interactions nominate candidate susceptibility genes at non-coding PDAC risk loci

The paper fine-maps GWAS risk variants for PDAC and identifies candidate target genes through chromatin conformation capture, finding functional interactions and eQTLs at specific loci.

Impact of Rare and Common Genetic Variation on Cell Type-Specific Gene Expression

Single-cell eQTL mapping in 5.4 million PBMCs from 1,925 individuals with matched WGS finds common-variant eQTLs for 83% and rare-variant signals for 47% of 21,404 genes.

Haplotype-based fine-mapping of variant associations for complex traits

This paper introduces a haplotype-based fine-mapping method called happler to identify causal variants for complex traits, showing improved performance over traditional methods in detecting haplotype effects.

Genome-wide LD scores enable robust heritability and genetic correlation estimation from summary statistics across genetic ancestries

SUMMIT improves heritability and genetic correlation estimation across diverse ancestries using LD scores and GWAS summary statistics, showing better accuracy in non-European populations.

Haplotype-rich cis-regulation underlies transcriptomic diversity across the breeding history of maize (Zea mays)

This study identifies cis-regulatory variants in maize using RNA-seq and genome-wide data, showing that haplotype-rich variants explain most expression diversity and that single-variant summaries are incomplete.

Melanoma germline genetics: immune, cancer driver, and Wnt signaling genes

This paper identifies 116 risk loci for melanoma through GWAS, links susceptibility to immunity and Wnt signaling, and develops a PRS improving risk prediction.

Dog-human gene network colocalization links synaptic signalling and ubiquitination to compulsive disorders

This paper uses GWAS in dogs and humans to identify a gene network linked to compulsive disorders, revealing biological pathways not detectable in human studies alone.

Decomposing polygenic risk of coronary artery disease into distinct biological processes

The paper decomposes polygenic risk of coronary artery disease into distinct biological processes using latent factor decomposition of genetic variants.

Mapping polygenic risk scores to brain cells: insights for neurodegenerative diseases

The paper uses polygenic risk scores to analyze genetic contributions to neurodegenerative diseases across brain cell types, finding shared and disease-specific genetic risks.

Expression predictions inform molecular interpretation of Alzheimer's disease risk loci

The paper evaluates how expression predictions from sequence models correlate with genetic associations in Alzheimer's disease risk loci, finding modest but significant relationships that suggest their utility as complementary evidence.

Matrix-Mechanical Genetic Susceptibility and Reduced Inflammatory and Immediate-Early Programs in Keratoconus

This study identifies genetic susceptibility in keratoconus linked to extracellular matrix mechanisms and shows reduced inflammatory and immediate-early gene expression in corneal tissue.

Fine-mapping HLA-II haplotypes in Alzheimer's disease and healthy longevity reveals distinct associations with microglial HLA-II load and neuropathology

Maize genetic diversity is largely unstructured by human ethnolinguistic diversity in its center of origin

The paper quantifies anthropogenic effects on maize genetic diversity in the Americas using genotyping, human genomic data, and linguistic maps, finding weak genome-wide effects but localized language-associated loci.