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

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 disea...

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Vydáno v:J Clin Transl Sci
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Cambridge University Press 2018
Témata:
Translational Research, Design and Analysis
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5915807/
https://ncbi.nlm.nih.gov/pubmed/29707261
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/cts.2017.311
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