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Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobio web tools.
Journal of Clinical and Translational Science 2017 December
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.
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.
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