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

Computational analysis of genome or exome sequences may improve inherited disease diagnosis, but is costly and time-consuming. We describe the use of , a web-based tool suite for intuitive, real-time genome diagnostic analyses. We used to identify the disease-causing variant in a patient with early...

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Bibliographic Details
Published in:Journal of clinical and translational science 2017-12, Vol.1 (6), p.381-386
Main 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
Format: Article
Language:English
Subjects:
Archives & records
Bioinformatics
Brain research
Brief Report
clinical diagnostic variant analysis
Computer applications
disease variant identification
early infantile epileptic encephalopathy
Encephalopathy
Epilepsy
Family medical history
Genes
Genetic screening
Genetics
Genome sequencing
Genomes
Genomics
Internet
Laboratories
Medicine
Metabolism
Mutation
Neurology
NMR
Nuclear magnetic resonance
Pediatrics
Software
Translational Research, Design and Analysis
Web browsers
web-based data analysis
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Summary:Computational analysis of genome or exome sequences may improve inherited disease diagnosis, but is costly and time-consuming. We describe the use of , a web-based tool suite for intuitive, real-time genome diagnostic analyses. We used to identify the disease-causing variant in a patient with early infantile epileptic encephalopathy with prior nondiagnostic genetic testing. tools can be used by clinicians to rapidly identify disease-causing variants from genomic patient sequencing data.
ISSN:2059-8661
2059-8661
DOI:10.1017/cts.2017.311