Genomics meets proteomics: identifying the culprits in disease

Area of Science:

• Genomics
• Proteomics
• Personalized Medicine

Background:

• Genome-wide association studies (GWAS) identify genomic risk loci impacting disease and traits.
• A major challenge is understanding the biological mechanisms underlying GWAS associations for precision treatment.
• Current research integrates genomics, epigenetics, and chromatin data, primarily from next-generation sequencing.

Purpose of the Study:

• To introduce advances in mass spectrometry-based proteomics.
• To suggest integrating proteomics into post-GWAS workflows.
• To highlight proteomics' potential for identifying functional variants and target genes.

Main Methods:

• Review of recent developments in mass spectrometry-based proteomics.
• Discussion of integrating proteomics with existing genomics and epigenetics data.
• Exploration of post-GWAS analytical workflows.

Main Results:

• Proteomics offers novel, underutilized possibilities for functional genomics.
• Identification and characterization of protein complexes and target genes are enhanced by proteomics.
• Integrative analysis provides an unbiased, detailed view of GWAS loci.

Conclusions:

• Combining proteomics with genomics provides a powerful, unbiased approach to mechanistic insights.
• Proteomics advances can significantly aid in understanding GWAS loci and their disease involvement.
• This integration is crucial for advancing personalized medicine and targeted therapies.