Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobio web tools. Issue 6 (23rd April 2018)

• Record Type: Journal Article
• Authors: Ward, Alistair; Karren, Mary A.; Di Sera, Tonya; Miller, Chase; Velinder, Matt; Qiao, Yi; Filloux, Francis M.; Ostrander, Betsy; Butterfield, Russell; Bonkowsky, Joshua L.; Dere, Willard; Marth, Gabor T.
• Is Part Of: Journal of clinical and translational science. Volume 1:Issue 6(2017)
• Page Start: 381
• Page End: 386
• Publication Date: 2018-04-23
• Subjects: Genome sequencing, -- disease variant identification, -- early infantile epileptic encephalopathy, -- web-based data analysis, -- clinical diagnostic variant analysis; Clinical medicine -- Research -- Periodicals; Medicine, Experimental -- Periodicals; Human experimentation in medicine -- Periodicals; 616.027
• DOI: 10.1017/cts.2017.311
• Languages: English
• ISSNs: 2059-8661

Abstract

Abstract : 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.