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Articles by Tabea Riepe
Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches
1,4 1 Radboud University Medical Center; 2 Fondazione Banca degli Occhi del Veneto; 3 Ghent University Hospital, Ghent University ↵* Corresponding author; email: erik.devrieze{at}radboudumc.nl Received September 24, 2024. Accepted February 11, 2025. This article is distributed exclusively by Cold Spring Harbor Laboratory Press for the first six months after the full-issue publication date (see https://genome.cshlp.org/site/misc/terms.xhtml).
Deep learning-based prediction of tissue-specific splice sites in the human neural retina
Abstract Splice prediction tools can be used to identify splice-altering variants in patients with inherited diseases. Since splicing is tissue-specific, a predicted splice defect may vary depending on the tissue of interest. Current splice prediction tools often neglect splice junctions from the human neural retina, which can lead to the misinterpretation of benign and pathogenic variants in patients with inherited retinal diseases (IRDs).
Pushing the limits of single molecule transcript sequencing to uncover the largest disease-associated transcript isoforms in the human neural retina
Abstract Sequencing technologies have long limited the comprehensive investigation of large transcripts associated with inherited retinal diseases (IRDs) like Usher syndrome, which involves 11 associated genes with transcripts up to 19.6 kb. To address this, we used PacBio long-read mRNA isoform sequencing (Iso-Seq) following standard library preparation and an optimized workflow to enrich for long transcripts in the human neural retina.
A proteogenomic atlas of the human neural retina
Abstract The human neural retina is a complex tissue with abundant alternative splicing and more than 10% of genetic variants linked to inherited retinal diseases (IRDs) alter splicing. Traditional short-read RNA-sequencing methods have been used for understanding retina-specific splicing but have limitations in detailing transcript isoforms.
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