Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

Long-read sequencing to reclassify variants of uncertain significance in IRDs

Ophthalmology Times, 25 Oct 2023

(Image Credit: AdobeStock/XaMaps) Reviewed by Debarshi Mustafi, MD, PhD Long-read sequencing technology may be emerging as an…