Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobio web tools

Abstract

IntroductionComputational analysis of genome or exome sequences may improve inherited disease diagnosis, but is costly and time-consuming.MethodsWe describe the use of iobio, a web-based tool suite for intuitive, real-time genome diagnostic analyses.ResultsWe 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
• disease variant identification
• early infantile epileptic encephalopathy
• web-based data analysis
• clinical diagnostic variant analysis