In:
Journal of Clinical and Translational Science, Cambridge University Press (CUP), Vol. 1, No. 6 ( 2017-12), p. 381-386
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
2059-8661
DOI:
10.1017/cts.2017.311
Language:
English
Publisher:
Cambridge University Press (CUP)
Publication Date:
2017
detail.hit.zdb_id:
2898186-8
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