Article

Resolving the diagnostic odyssey in inherited retinal dystrophies through long-read genome sequencing

2024-08-30

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Inherited Retinal Dystrophies (IRDs) are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease causing. Genetic diagnosis of IRDs has been greatly improved thanks to the incorporation of Next Generation Sequencing (NGS) approaches. However, the current IRD molecular...

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Literature Corpus work: 1658ee9f-f3ce-58d9-8d0f-e51b76bbf3ac
DOI: 10.1101/2024.08.28.24312668

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