fig2

CCEPAS: the creation and validation of a fast and sensitive clinical whole exome analysis pipeline based on gene and variant ranking

Figure 2. Diagram depicting the resources that Pheno2Gene, a gene list generated based on clinical feature utilized OMIM, HPO and others. OMIM: Online Mendelian Inheritance in Man; HPO: Human Phenotype Ontology; GTR: Gene testing Registry

Journal of Translational Genetics and Genomics
ISSN 2578-5281 (Online)
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