NXT-EYE: integrated genomics and transcriptomics for gene identification in inherited retinal degeneration Ghent University
Inherited retinal degeneration (RD) is responsible for 5% of blindness worldwide. Genetic
studies have revealed underlying molecular defects in ~50% of individuals with RD, most of
which are located in the coding portion of the genome. The advent of next-generation sequencing (NGS) has revolutionized the genetic landscape. However, the massive amount of
data produced by NGS hampers disease gene identification, requiring ...