Introduction: Computational analysis of genome or exome sequences may improve inherited disease diagnosis, but is costly and time-consuming.
Methods: We describe the use of iobio, a web-based tool suite for intuitive, real-time genome diagnostic analyses.
Results: We used iobio to identify the disease-causing variant in a patient with early infantile epileptic encephalopathy with prior nondiagnostic genetic testing.
Conclusions: Iobio tools can be used by clinicians to rapidly identify disease-causing variants from genomic patient sequencing data.
Keywords: Genome sequencing; clinical diagnostic variant analysis; disease variant identification; early infantile epileptic encephalopathy; web-based data analysis.