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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 | Chemistry and pharmacology of the citrus bioflavonoid hesperidin显示文摘 | Garg A Garg S Zaneveld L J D | 2001 | Phytotherapy Research2001，15，8： | 1 |
| 3 | Efficacyand safety of a new vaginal contraceptive antimicrobialformulation containing high molecular weight poly(sodi-um4-styrenesulfon-ate)显示文摘 | Zaneveld L J Waller D P Anderson R A | 2002 | Biol Reprod2002，66，： | 1 |
| 4 | Spatial and temporal variability of absorption by dissolved material at a conti-nental shelf显示文摘 | Boss E Pegau W S Zaneveld J R V | 2001 | Journal of Geophysical Research-Oceans2001，106，5： | 1 |
| 5 | Modulation transfer function of sea water 显示文摘 | Zaneveld R J V Beardsley G F | 1969 | Opt Soc Am1969，59，4： | 1 |
| 6 | Effect of particle size distribution and chlorophyll content on beam attenuation spectra 显示文摘 | J C Kitchen J R V Zaneveld H Pak | 1982 | Appl Opt1982，21，21： | 1 |
| 7 | A Three-Layered Sphere Model of the Optical Properties of Phytoplankton显示文摘 | KITCHEN J C ZANEVELD R J V | 1992 | Limnol Oceanogr1992，37，8： | 1 |
| 8 | Quality assurance for sperm concentration using latex beads 显示文摘 | Peters A J Zaneveld LJ Jeyendran RS | 1993 | Fertil Steril1993，60，4： | 1 |
| 9 | QIIME allows analysis of high-throughput community sequencing data 显示文摘 | Caporaso JG Kuczynski J Stombaugh J Bittinger K Bushman FD Costello EK Fierer N Pena AG Goodrich JK Gordon JI Huttley GA Kelley ST Knights D Koenig JE Ley RE Lozupone CA Mcdonald D Muegge BD Pirrung M Reeder J Sevinsky JR Tumbaugh PJ Walters WA Widmann J Yatsunenko T Zaneveld J Knight R | 2010 | Nat Methods2010，7，5： | 1 |
| 10 | Theoretical derivation of the depth average of remotely sensed optical parame- ters显示文摘 | Zaneveld J R Barnard A Boss E | 2005 | Optics Express2005，13，22： | 1 |
| 11 | Motility and enzyme activity of human spermatozoa stored for 24 hours at 5 ℃ and -196 ℃显示文摘 | Goodpasture JC Zaneveld LJ | 1980 | Fertil Steril1980，34，4： | 1 |
| 12 | Field measurements of in-ice radiance显示文摘 | Pegau W S Zaneveld J R V | 2000 | Cold Regions Science and Technology2000，31，： | 1 |
| 13 | Biological activity as- sessment of a novel contraceptive antimicrobial agent显示文摘 | Garg A Anderson RA Zaneveld D et ai | 2005 | Androl2005，26，3： | 1 |
| 14 | Chemistry and pharmacology of the Citrus Bioflavonoid hesperidin 显示文摘 | Garg A Garg S Zaneveld L J | 2001 | Phytotherapy Research2001，15，8： | 1 |
| 15 | Predictive functional profiling of microbial communities using 16S rRNA marker gene sequences显示文摘 | Langille M G Zaneveld J Caporaso J G | 2013 | Nature Biotechnology2013，31，9： | 1 |
| 16 | Efficacy and safety of a new vaginal contraceptive antimicrobial formulation containing high molecular weight poly(sodium4-styrenesulfonate)显示文摘 | Zaneveld LJ Waller DP Anderson RA | 2002 | BiolReprod2002，66，4： | 1 |
| 17 | Reflective-tube absorption meter显示文摘 | Bartz R Kitchen J C | 1990 | SPIE1990，1302，： | 1 |
| 18 | Chemistry and pharmacology of the citrus bioflavonoid hesperidin显示文摘 | Garg A Garg S Zaneveld LJ | 2001 | Phytother Res2001，15，8： | 1 |
| 19 | On the noncorrelation of the vertical structure of light scattering and chlorophyll a in case I waters 显示文摘 | KITCHEN J C ZANEVELD J R V | 1990 | Journal of Geophysical Research1990，94，20： | 1 |
| 20 | A Three-layered Sphere Model of the Optical Properties of Phytoplankton显示文摘 | Kitchen J C Zaneveld R J V | 1992 | Limnology and Oceanography1992，37，8： | 1 |
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