GWAS / association mapping

The paper constructs a population-scale isoform atlas for lettuce and develops ISONET-GWAS to analyze isoform-based trait associations and regulatory mechanisms.

ATTICUS improves gene expression prediction and association testing by incorporating uncertainty awareness and personalized training, enhancing accuracy and cell-type specificity in disease studies.

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.

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.

This study uses long-read genomes from a Black or African American cohort to identify genomic regions under recent positive selection and their associations with phenotypes.

This study identifies genetic regulators of sugar-dependent food consumption in Drosophila using GWAS and RNAi knockdown.

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

This study identifies polygenic trends in morning chronotype evolution in modern humans above 20 degrees north, showing increased morningness compared to Neanderthals.

The paper estimates whole-genome heritability of complex traits across diverse populations, finding rare and non-coding variants significantly contribute to heritability.

This study develops pangenome-based frameworks to analyze DNA methylome variation across diverse human genomes, identifying genetic factors influencing methylation patterns and their associations with complex traits.

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

The paper integrates long-read, short-read, and SNP data using a pangenome and imputation framework to identify structural variants associated with stature and milk traits in dairy cattle.

The paper performs single-cell transcriptome-wide association analysis to identify cell-type-specific genetic susceptibility genes for colorectal cancer, finding 546 gene-cell-type associations and 347 candidate susceptibility genes.

This study uses multimodal transcriptomic data to enhance Alzheimer's disease risk gene discovery, identifying 161 risk genes with proteomic support and an interconnected network of hub genes.

The paper uses joint QTL mapping to analyze pleiotropy patterns across structured environments in budding yeast, revealing genetic interactions influenced by environmental relationships.

The paper tests if climate-associated genomic variation predicts phenotypic adaptation in European wild apple, finding genomic offsets link to bud-break timing but not other traits.

This study conducts ancestry-specific and multi-ancestry GWAS of restless legs syndrome, identifying shared and ancestry-specific risk loci across African, Latin American, and European populations.

This study uses ancient genomes to show coordinated evolutionary changes in dietary endophenotypes across Holocene Europe.

The paper presents a connection-level genetic atlas of human cortical functional connectivity, identifying genetic loci associated with resting and task states.

This study identifies SRSF1's role in coordinating transcription and alternative splicing, showing its impact on p53 regulation and apoptosis across multiple cell lines and cancer cohorts.

This study uses population genomics and machine learning to identify genetic markers predictive of antifungal resistance in Candida albicans, highlighting the need for expanded resistance catalogues.

The paper identifies RGMB as a potential risk factor for East Asian POAG through proteogenomic analysis, showing ancestry-specific associations and lack of colocalization with IOP traits.

The paper analyzes genomic data from UK black alder populations to identify loci associated with environmental adaptation and assesses maladaptation risks under climate change.

The paper identifies 16 genetic loci interacting with sleep duration to influence glycemic traits in over 480,000 individuals, revealing distinct biological mechanisms for short and long sleep.

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.

The paper identifies immune cell type-specific gene expression regulated by tandem repeats using multi-omics data from large cohorts.

This study identifies two genetically distinct axes of hand and shoulder soft-tissue disorders and shows divergent responses to adiposity and incretin therapy.

The paper identifies invasion-associated genetic variants in pneumococcal lineages by separating serotype and lineage effects, highlighting candidate determinants for experimental investigation.

The paper identifies microglial states associated with Parkinson's disease genetic risk and Lewy body pathology using single-cell profiling and integrates data with AMP PD.

LDscnR reduces genome scan tests by grouping correlated markers using LD decay, improving precision while maintaining recall, and showing structure can explain outlier regions.