CGSEA

CGSEA evaluates associations between chemicals and complex diseases or traits by integrating TWAS and mRNA expression profiles from genome-wide summary-level data.

Key Features:

• Data Requirements: Operates on genome-wide summary-level data including transcriptome-wide association studies (TWAS) and mRNA expression profiles without requiring raw sequencing files.
• Flexibility to scan chemicals: Enables scanning of candidate chemicals associated with diverse complex diseases or traits across supplied summary datasets.
• Integration-based analysis: Integrates TWAS and mRNA expression profiles to detect chemical–gene associations that may relate to disease mechanisms.
• Application to GWAS summaries: Has been applied to GWAS summary statistics to identify chemicals implicated in disease pathogenesis or therapeutic intervention.

Scientific Applications:

• ADHD (attention deficit/hyperactivity disorder): Applied to GWAS summary statistics for ADHD to identify chemicals associated with gene sets potentially relevant to disease biology.
• ASD (autism spectrum disorder): Applied to GWAS summary statistics for ASD to reveal chemicals linked to gene expression changes implicated in ASD.
• Cervical cancer: Applied to GWAS summary statistics for cervical cancer to detect chemicals associated with gene sets relevant to disease processes or interventions.

Methodology:

Integrates TWAS and mRNA expression profiles from genome-wide summary-level data to identify significant chemical–gene interactions and to scan candidate chemicals associated with complex diseases or traits.