Genepanel.iobio - an easy to use web tool for generating disease- and phenotype-associated gene lists

摘要

An overview of genepanel.iobio applied to clinical genetics cases a diagrammatic view of the resources genepanel.iobio utilizes and how genepanel.iobio presents a prioritized and unioned set of candidate genes a screenshot view of the summary page of a genepanel.iobio analysis, showing the ability to modify and customize the final gene list and export the results two independent analysts correctly prioritize the diagnostic gene using genepanel.iobio in 7 of the 16 clinical cases (44%) tested and where the diagnostic gene was ranked in the final gene list by each analyst radar-plot summary of which resources correctly prioritized the diagnostic gene, allowing for multiple resources to identify the same gene