Article

Pushing the limits of single molecule transcript sequencing to uncover the largest disease-associated transcript isoforms in the human neural retina

2024-09-14

Abstract excerpt

<h4>ABSTRACT</h4> 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 trans...

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Literature Corpus work: f75aff5e-3fa9-5e0a-abb5-6e65ab37ce7c
DOI: 10.1101/2024.09.10.612265

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