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使用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。

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

作者信息

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

机构信息

Department of Human Genetics, USTAR Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.

Department of Pediatrics, Division of Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.

出版信息

J Clin Transl Sci. 2017 Dec;1(6):381-386. doi: 10.1017/cts.2017.311.

DOI:10.1017/cts.2017.311
PMID:29707261
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5915807/
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 , a web-based tool suite for intuitive, real-time genome diagnostic analyses.

RESULTS

We used to identify the disease-causing variant in a patient with early infantile epileptic encephalopathy with prior nondiagnostic genetic testing.

CONCLUSIONS

tools can be used by clinicians to rapidly identify disease-causing variants from genomic patient sequencing data.

摘要

引言

对基因组或外显子序列进行计算分析可能会改善遗传性疾病的诊断，但成本高昂且耗时。

方法

我们描述了一种基于网络的工具套件的使用，该套件用于直观的实时基因组诊断分析。

结果

我们使用该工具套件在一名先前基因检测未能确诊的早期婴儿型癫痫性脑病患者中鉴定出致病变异。

结论

临床医生可以使用该工具套件从患者基因组测序数据中快速鉴定致病变异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4066/6798194/1c4750c684c8/S2059866117003119_fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4066/6798194/fedde84e4d43/S2059866117003119_fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4066/6798194/1c4750c684c8/S2059866117003119_fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4066/6798194/fedde84e4d43/S2059866117003119_fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4066/6798194/1c4750c684c8/S2059866117003119_fig2.jpg

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