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您的检索式：作者名="ZANEVELD Jacques"
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| 1 | Dawn of ocular gene therapy:implications for molecular diagnosis in retinal disease显示文摘Personalized medicine aims to utilize genomic information about patients to tailor treatment.Gene replacement therapy for rare genetic disorders is perhaps the most extreme form of personalized medicine,in that the patients' genome wholly determines their treatment regimen.Gene therapy for retinal disorders is poised to become a clinical reality.The eye is an optimal site for gene therapy due to the relative ease of precise vector delivery,immune system isolation,and availability for monitoring of any potential damage or side effects.Due to these advantages,clinical trials for gene therapy of retinal diseases are currently underway.A necessary precursor to such gene therapies is accurate molecular diagnosis of the mutation(s) underlying disease.In this review,we discuss the application of Next Generation Sequencing(NGS) to obtain such a diagnosis and identify disease causing genes,using retinal disorders as a case study.After reviewing ocular gene therapy,we discuss the application of NGS to the identification of novel Mendelian disease genes.We then compare current,array based mutation detection methods against next NGS-based methods in three retinal diseases:Leber's Congenital Amaurosis,Retinitis Pigmentosa,and Stargardt's disease.We conclude that next-generation sequencing based diagnosis offers several advantages over array based methods,including a higher rate of successful diagnosis and the ability to more deeply and efficiently assay a broad spectrum of mutations.However,the relative difficulty of interpreting sequence results and the development of standardized,reliable bioinformatic tools remain outstanding concerns.In this review,recent advances NGS based molecular diagnoses are discussed,as well as their implications for the development of personalized medicine. | ZANEVELD Jacques WANG Feng WANG Xia CHEN Rui | 2013 | Science China(Life Sciences)2013，56，2： | 3 |
| 2 | Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing显示文摘 | Xia Wang Hui Wang Vincent Sun Han-Fang Tuan Vafa Keser Keqing Wang Huanan Ren Irma Lopez Jacques E Zaneveld Sorath Siddiqui Stephanie Bowles Ayesha Khan Jason Salvo Samuel G Jacobson Alessandro Iannaccone Feng Wang David Birch John R Heckenlively Gerald A | 2013 | Journal of Medical Genetics2013，，10： | 1 |
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