Universal concept signature analysis: genome-wide quantification of new biological and pathological functions of genes and pathways.

ABSTRACT: Identifying new gene functions and pathways underlying diseases and biological processes are major challenges in genomics research. Particularly, most methods for interpreting the pathways characteristic of an experimental gene list defined by genomic data are limited by their dependence on assessing the overlapping genes or their interactome topology, which cannot account for the variety of functional relations. This is particularly problematic for pathway discovery from single-cell genomics with low gene coverage or interpreting complex pathway changes such as during change of cell states. Here, we exploited the comprehensive sets of molecular concepts that combine ontologies, pathways, interactions and domains to help inform the functional relations. We first developed a universal conce

SUBMITTER: Chi X 

PROVIDER: S-EPMC7673342 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature