TWAS atlas 2.0: an updated data resource for transcriptome-wide association studies

Area of Science:

• Genetics
• Bioinformatics
• Systems Biology

Background:

• Transcriptome-wide association studies (TWAS) integrate GWAS and eQTL data to identify genes linked to traits.
• TWAS Atlas is a curated resource for analyzing gene-trait associations.
• Previous versions facilitated gene-trait association analysis.

Purpose of the Study:

• To update and expand the TWAS Atlas resource with the latest TWAS findings and analysis capabilities.
• To enhance the integration and analysis of gene-trait associations for complex traits.
• To provide researchers with advanced tools for exploring genetic regulation of traits.

Main Methods:

• Curated and integrated the latest TWAS results from literature.
• Incorporated GWAS datasets for expanded TWAS analysis across diverse phenotypes.
• Enhanced the knowledge graph through literature information extraction.
• Developed multidimensional interactive analysis modules (functional enrichment, Mendelian randomization, colocalization, fine-mapping).

Main Results:

• TWAS Atlas 2.0 now includes 676,198 gene-trait associations, covering 590 traits and 24,870 genes.
• Significantly enhanced knowledge graph with improved usability and analytical power.
• New interactive modules enable comprehensive exploration of causal gene-trait relationships.
• Expanded phenotype coverage and increased the number of gene-trait associations by over 60%.

Conclusions:

• TWAS Atlas 2.0 is a significantly enhanced resource for exploring gene-trait associations.
• The updated platform provides powerful tools for understanding the genetic basis of complex traits.
• Facilitates deeper insights into gene expression and its regulatory roles in human diseases and traits.