Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics

Despite advances in sequencing technologies, a molecular diagnosis remains elusive in many patients with Mendelian disease. Current short-read clinical sequencing approaches cannot provide chromosomal phase information or epigenetic information without further sample processing, which is not routine...

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Bibliographic Details

Published in:	JCI Insight
Main Authors:	Kenji Nakamichi, Jennifer Huey, Riccardo Sangermano, Emily M. Place, Kinga M. Bujakowska, Molly Marra, Lesley A. Everett, Paul Yang, Jennifer R. Chao, Russell N. Van Gelder, Debarshi Mustafi
Format:	Article
Language:	English
Published:	American Society for Clinical investigation 2024-10-01
Subjects:	Genetics Ophthalmology
Online Access:	https://doi.org/10.1172/jci.insight.183902