Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobio web tools.
Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobio web tools.
复制标题
使用 iobio 网络工具对基因组患者测序数据进行快速临床诊断变异研究。
DOI：
10.1017/cts.2017.311
复制
发表时间：
2017
影响因子：
2.6
通讯作者：
Marth,GaborT
中科院分区：
文献类型：
--
作者：
Ward,Alistair;Karren,MaryA;DiSera,Tonya;Miller,Chase;Velinder,Matt;Qiao,Yi;Filloux,FrancisM;Ostrander,Betsy;Butterfield,Russell;Bonkowsky,JoshuaL;Dere,Willard;Marth,GaborT
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.ConclusionsIobio tools can be used by clinicians to rapidly identify disease-causing variants from genomic patient sequencing data.
