#11 · Genomics
Atlases and tools link GWAS loci and QTLs to cell types, pathways, and mechanisms
The dominant thread is the translation of GWAS, QTL, and single-cell association data into mechanistic context. Most items are curated resources or atlases rather than new inferential methods: Spatial2GWAS and Spatial GWAS Atlas link spatial transcriptomic regions to GWAS traits, GENEasso curates gene-based associations from GWAS summary statistics, TWAS atlas 2.0 updates predicted expression associations, and scVMAP and DisCP-Atlas connect chromatin accessibility and cellular processes to disease loci. CIMA provides eQTL and caQTL maps across more than 10 million circulating immune cells. Two items carry methodological content. The trans-pQTL study uses protein-protein interaction annotations to guide mapping and identifies 17,662 trans-pQTLs linked to GWAS loci, while SGCRNA offers co-expression network analysis without scale-free constraints. Novelty lies mainly in integrating spatial, single-cell, and interaction-level annotation with GWAS-scale data rather than in new statistical theory.
Published papers
Protein-protein interactions shape trans-regulatory impact of genetic variation on protein expression and complex traits.
Re-analyzes large pQTL maps and uses PPI annotations to guide trans-pQTL mapping, identifying 17,662 trans-pQTLs linked to GWAS loci.
SGCRNA: spectral clustering-guided co-expression network analysis without scale-free constraints for multi-omic data.
SGCRNA is a Julia tool for co-expression network analysis that avoids WGCNA's scale-free assumption and tuning requirements, addressing slope neglect in…
Spatial2GWAS: a database for linking spatial transcriptomic regions with GWAS traits.
Spatial heterogeneity of gene expression within tissue regions has a critical influence on biological functions, thereby affecting disease pathogenesis.
GENEasso: a curated resource of credible disease-gene associations across complex diseases from GWAS summary statistics.
Gene-based association analysis has become a powerful strategy to improve the biological interpretability of genome-wide association studies (GWAS) by aggregati
Spatial GWAS Atlas: a knowledgebase for decoding the genetic architecture of complex traits in spatial resolution.
Spatial GWAS Atlas is a knowledgebase linking 3854 GWAS summary statistics to 635 spatial transcriptomics datasets to map trait-associated cells and spatial…
scVMAP: a comprehensive platform for integrating single-cell chromatin accessibility regions with causal variants.
Integrating causal variant effects with single-cell assay for transposase-accessible chromatin with high-throughput sequencing (scATAC-seq) enables a more effec
DisCP-Atlas: a comprehensive resource mapping cellular processes to complex diseases.
Genome-wide association studies (GWAS) have identified thousands of disease-associated loci, yet translating these findings into biological mechanisms remains c
TWAS atlas 2.0: an updated data resource for transcriptome-wide association studies.
Transcriptome-wide association studies (TWAS), which combine large-scale GWAS and expression quantitative trait loci (eQTL) datasets to predict gene expression
Uncovering coordinated pathway interactions through gene co-differential expression in yeast.
YeastCoDEGNet: a co-differential expression network from 143 curated yeast microarray experiments, linking genes and pathway modules.
Chinese Immune Multi-Omics Atlas.
CIMA is a multi-omics atlas of over 10 million circulating immune cells from 428 Chinese adults, with a gene regulatory network, eQTL/caQTL maps, and a cell…
Topic history
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