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

Autor:	Alistair Ward, Mary A. Karren, Tonya Di Sera, Chase Miller, Matt Velinder, Yi Qiao, Francis M. Filloux, Betsy Ostrander, Russell Butterfield, Joshua L. Bonkowsky, Willard Dere, Gabor T. Marth
Jazyk:	angličtina
Rok vydání:	2017
Předmět:	Genome sequencing disease variant identification early infantile epileptic encephalopathy web-based data analysis clinical diagnostic variant analysis Medicine
Zdroj:	Journal of Clinical and Translational Science, Vol 1, Pp 381-386 (2017)
Druh dokumentu:	article
ISSN:	2059-8661
DOI:	10.1017/cts.2017.311
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/0f0a690e74cd4c9ca40ed9325a12314f Zobrazit plný text záznamu View record in DOAJ