We have located links that may give you full text access.
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.
Full text links
Related Resources
Trending Papers
Systemic lupus erythematosus.Lancet 2024 April 18
Should renin-angiotensin system inhibitors be held prior to major surgery?British Journal of Anaesthesia 2024 May
Autoimmune Hemolytic Anemias: Classifications, Pathophysiology, Diagnoses and Management.International Journal of Molecular Sciences 2024 April 13
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app