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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

4 Feb 2019

Abstract excerpt

Inherited retinal diseases (IRDs) are a common cause of visual impairment. IRD covers a set of genetically highly heterogeneous disorders with more than 150 genes associated with one or more clinical forms of IRD. Molecular genetic diagnosis has become increasingly important especially due to expanding number of gene therapy strategies under development. Next generation sequencing (NGS) of gene panels has proven...

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PMID: 30718709
DOI: 10.1038/s41598-018-38007-2

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