TAGOOS

"TAGOOS" (TAG SNP bOOSting) is a supervised model to address the challenges inherent in genome-wide association studies (GWAS) regarding the identification and prioritization of functional single nucleotide polymorphisms (SNPs), particularly those in non-coding regions likely to serve regulatory roles. Given the complexity introduced by linkage disequilibrium (LD) blocks that obscure the direct association of SNPs with complex phenotypes, TAGOOS offers a comprehensive solution by integrating associated SNPs, LD blocks, and regulatory features to compute genome-wide scores for SNP prioritization.

Key Features and Functionalities:

- SNP Prioritization: TAGOOS efficiently enriches and prioritizes associated SNPs with high precision, demonstrated by notable odds ratios and area under the curve (AUC) metrics for intronic and intergenic regions.

- Correlation with Biological Significance: The TAGOOS score correlates well with the maximal significance of associated SNPs and expression quantitative trait loci (eQTLs), as well as with the number of biological samples annotated for key regulatory features, reinforcing its utility in identifying functionally relevant SNPs.

- Insights into Phenotype Associations: Through the analysis of specific phenotypes such as cleft lip and human adult height, TAGOOS recovers known functional loci and predicts new ones, enriching the understanding of phenotype-genotype associations.

- Comprehensive Resources and Accessibility: TAGOOS provides scores, annotations, and UCSC genome tracks, all made accessible through a well-documented online platform, facilitating ease of use for researchers.