Article
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Scientific reports - 15 Dec 2015
Ge Zhongqi, Bowles Kristen, Goetz Kerry, Scholl Hendrik P N, Wang Feng, Wang Xinjing, Xu Shan, Wang Keqing, Wang Hui, Chen Rui
Abstract excerpt
The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE(®)) was established in an effort to facilitate basic and clinical research of human inherited eye disease. In order to provide high quality genetic testing to eyeGENE(®)'s enrolled patients which potentially aids clinical diagnosis and disease treatment, we carried out a pilot study and performed Next-generation sequencing (NGS) based...
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