Mutations in > 270 genes cause inherited retinal diseases (IRDs) with a high degree of genetic heterogeneity. However, it is currently unknown how many more genes are involved in IRDs, and whole exome and genome sequencing can achieve only ~40 to 75% successful molecular diagnosis. We apply whole-exome sequencing for rapid identification of disease-causing variants in retinal disease patients and families with the aim of expediting the novel disease gene discovery, improved molecular diagnosis, and for the understanding of the role of more than one gene in causing monogenic diseases.
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- Pierrache*, Kimchi*, Ratnapriya* et al., Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma. Ophthalmology. 2017:124:992-1003. (*equal contribution).
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