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

Abstract Inherited retinal degenerations (IRDs) are a heterogeneous group of predominantly monogenic disorders with over 300 causative genes identified. Short-read exome sequencing is commonly used to genotypically diagnose patients with clinical features of IRDs, however, in up to 30% of patients w...

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Bibliographic Details
Published in:	Scientific Reports
Main Authors:	Kenji Nakamichi, Russell N. Van Gelder, Jennifer R. Chao, Debarshi Mustafi
Format:	Article
Language:	English
Published:	Nature Portfolio 2023-05-01
Online Access:	https://doi.org/10.1038/s41598-023-35791-4

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