Abstract
Computational analysis of genome or exome sequences may improve inherited disease diagnosis, but is costly and time-consuming. We describe the use of iobio, a web-based tool suite for intuitive, real-time genome diagnostic analyses. We used iobio to identify the disease-causing variant in a patient with early infantile epileptic encephalopathy with prior nondiagnostic genetic testing. Iobio tools can be used by clinicians to rapidly identify disease-causing variants from genomic patient sequencing data.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
