Targeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients

Patients with inherited retinal diseases (IRDs) are usually diagnosed after genetic testing. However, IRDs are genetically heterogeneous, with more than 300 causative genes, making them more complex and challenging to detect with common genetic analysis tools such as whole-exome sequencing, short-read sequencing, or even chromosomal mapping.

In this study, researchers at the University of Washington’s Department of Ophthalmology evaluated another genetic analysis tool called long-read sequencing. Focusing on the USH2A gene from three familial members with suspected or confirmed diagnoses, long-read sequencing resulted in deeper and more accurate insights that are unattainable with the other genetic analysis tools.

What this means for Usher syndrome: Usher syndrome is a complex, heterogeneous disease.  Genetic testing is the most accurate path to diagnosis, and yet, some genetic analysis tools may outperform others.  Long-read sequencing delivers more precision and accuracy than other tools, and use in genetic testing may improve the probability of a successful Usher syndrome diagnosis.

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