PhenoExam: gene set analyses through integration of different phenotype databases.

ABSTRACT:

Background

Gene set enrichment analysis (detecting phenotypic terms that emerge as significant in a set of genes) plays an important role in bioinformatics focused on diseases of genetic basis. To facilitate phenotype-oriented gene set analysis, we developed PhenoExam, a freely available R package for tool developers and a web interface for users, which performs: (1) phenotype and disease enrichment analysis on a gene set; (2) measures statistically significant phenotype similarities between gene sets and (3) detects significant differential phenotypes or disease terms across different databases.

Results

PhenoExam generates sensitive and accurate phenotype enrichment analyses. It is also effective in segregating gene sets or Mendelian diseases with very similar phenotypes. W

SUBMITTER: Cisterna A 

PROVIDER: S-EPMC9805686 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature