Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobio web tools.
J Clin Transl Sci
; 1(6): 381-386, 2017 Dec.
Article
em En
| MEDLINE
| ID: mdl-29707261
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.
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Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article