Article
PhenoExam: gene set analyses through integration of different phenotype databases.
BMC bioinformatics - 31 Dec 2022
Cisterna Alejandro, González-Vidal Aurora, Ruiz Daniel, Ortiz Jordi, Gómez-Pascual Alicia, Chen Zhongbo, Nalls Mike, Faghri Faraz, Hardy John, Díez Irene, Maietta Paolo, Álvarez Sara, Ryten Mina, Botía Juan A
Abstract excerpt
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...
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