Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2019 Dec 11;12:190. doi: 10.1186/s12920-019-0641-1

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© The Author(s). 2019

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

PMC Copyright notice

Fig. 1 — An overview of genepanel.iobio applied to clinical genetics cases a a diagrammatic view of the resources genepanel.iobio utilizes and how genepanel.iobio presents a prioritized and unioned set of candidate genes b 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 c 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 d radar-plot summary of which resources correctly prioritized the diagnostic gene, allowing for multiple resources to identify the same gene