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- W2896231323 endingPage "27" @default.
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- W2896231323 abstract "Inherited retinal diseases (IRDs) display a very high degree of clinical and genetic heterogeneity, which poses challenges in finding the underlying defects in known IRD-associated genes and in identifying novel IRD-associated genes. Knowledge on the molecular and clinical aspects of IRDs has increased tremendously in the last decade. Here, we outline the state-of-the-art techniques to find the causative genetic variants, with special attention for next-generation sequencing which can combine molecular diagnostics and retinal disease gene identification. An important aspect is the functional assessment of rare variants with RNA and protein effects which can only be predicted in silico. We therefore describe the in vitro assessment of putative splice defects in human embryonic kidney cells. In addition, we outline the use of stem cell technology to generate photoreceptor precursor cells from patients’ somatic cells which can subsequently be used for RNA and protein studies. Finally, we outline the in silico methods to interpret the causality of variants associated with inherited retinal disease and the registry of these variants." @default.
- W2896231323 created "2018-10-26" @default.
- W2896231323 creator A5008848574 @default.
- W2896231323 creator A5020654126 @default.
- W2896231323 creator A5023036752 @default.
- W2896231323 creator A5073552033 @default.
- W2896231323 creator A5078101996 @default.
- W2896231323 date "2019-01-01" @default.
- W2896231323 modified "2023-10-01" @default.
- W2896231323 title "Identification and Analysis of Genes Associated with Inherited Retinal Diseases" @default.
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