ProGeM

ProGeM stands for "Prioritization of candidate causal Genes at Molecular QTLs," a comprehensive framework designed to address a critical challenge in the field of quantitative trait locus (QTL) mapping, particularly concerning molecular phenotypes such as metabolites, lipids, and proteins. Through genome-wide association studies (GWAS), QTL mapping is a potent method for uncovering molecular mechanisms that may be relevant to human diseases. However, a significant hurdle in this process is identifying the causal genes at the observed QTLs, which is crucial for understanding these associations' biological underpinnings and guiding further research and potential therapeutic interventions.

The ProGeM framework seeks to overcome this challenge by incorporating many data sources, including biological domain-specific annotation and genome annotation data from multiple repositories. This comprehensive approach allows ProGeM to prioritize candidate genes at QTLs with high accuracy and reliability.

ProGeM's utility is not limited to metabolite QTLs; the evidence suggests that its conclusions also apply to other molecular phenotypes. This versatility makes ProGeM a powerful tool for annotating molecular QTLs across various studies, potentially facilitating breakthroughs in understanding the genetic basis of various human diseases.