Article

PhenoExam: an R package and Web application for the examination of phenotypes linked to genes and gene sets

2021-06-30

Abstract excerpt

Gene set based phenotype enrichment analysis (detecting phenotypic terms that emerge as significant in a set of genes) can improve the rate of genetic diagnoses amongst other research purposes. To facilitate diverse phenotype 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;...

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Literature Corpus work: 8992553e-ac4c-5f11-8ebf-8282909d64e9
DOI: 10.1101/2021.06.29.450324

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