uniConSig

UniConSig is a software tool to advance genomics research by identifying new gene functions and pathways that underlie diseases and biological processes. Traditional methods for interpreting pathways from genomic data may rely on assessing overlapping genes or their interactome topology, which are limitations uniConSig aims to overcome. This tool leverages comprehensive molecular concepts, including ontologies, pathways, interactions, and domains, to inform on functional relations beyond mere gene overlap or interactome structure.

UniConSig introduces a universal concept signature (uniConSig) analysis, a novel approach for genome-wide quantification of new gene functions in biological or pathological processes. This analysis utilizes signature molecular concepts derived from known functional gene lists, offering a more nuanced understanding of gene function.

Building on this, uniConSig also offers a concept signature enrichment analysis (CSEA) designed for a deeper functional assessment of pathways enriched in an experimental gene list. By employing a framework that identifies shared concept signatures between gene sets across multiple functional levels, CSEA transcends the constraints of existing methods. Thus, it enables a more comprehensive pathway discovery, which is especially valuable in contexts such as single-cell genomics, which suffers from low gene coverage, and in interpreting complex pathway changes, like those occurring during shifts in cell states.