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Zi-Bing Jin, Xiu-Feng Huang, Dong-Jun Xing; Exome sequencing as a new approach for genetic screening in inherited retinal degeneration. Invest. Ophthalmol. Vis. Sci. 2013;54(15):674.
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Inherited retinal degenerative (IRD) disease is a group of genetic retinal disorders and is a leading cause of inevitable blindness world wide. Due to phenotypic and genetic heterogeneity, molecular diagnosis using traditional approach is very difficult. This study aimed to develop an approach based on next-generation sequencing to determine the genetic defects in IRD patients precisely and effectively.
One hundred and twenty unrelated Chinese IRD families with retinitis pigmentosa, Usher syndrome, cone dystrophy or stargardt's disease, were recruited. A total of 285 known and additional genes of inherited retinal diseases were selected for deep exome resequencing.
Through systematic data analysis using established bioinformatics pipeline and segregation analysis, a number of genetic variants were released. Over 60% families were successfully identified genetic defects.
In conclusion, this study revealed the genetic defects in a serial of disease genes and demonstrated the robustness of targeted exome sequencing to precisely and rapidly determine genetic defects. The methodology provides a reliable strategy for routine gene diagnosis of IRD.
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