Integration of NGS Genomic Metadata Analysis with Open-Source Genomic Databases for Single Cell Tissue Samples

In this paper, we present the development and use of an automated platform that integrates the evaluation of genomic metadata from single-cells in colorectal tissues with the open source KEGG genomic database via API using the Biopython package. The system collects and fuses the information into its own PostgreSQL database, from which the results of the analysis are transferred to a graphical user interface using the NpgSql extension. Thus, the implemented application allows the identification of molecular pathways and gene-specific drug targets associated with the mutated genes per cell, providing the combined visualization of tumor diagnostics and gene therapy opportunities. Using the application, 9 predefined gene panels, containing 2800 genes, were analyzed based on which the molecular pathway and drug target coverage of the genes, as well as the correlation between the pathways and drug target values were evaluated.