Cas9-targeted-based long-read sequencing for genetic screening of RPE65 locus

IntroductionLong-read sequencing (LRS) enables accurate structural variant detection and variant phasing. When a molecular diagnosis is suspected, target enrichment can reduce the cost and duration of sequencing.MethodsLRS was conducted in five inherited retinal dystrophy (IRD) patients harboring a...

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Principais autores:	Cristina Rodilla, Gonzalo Núñez-Moreno, Yolanda Benitez, Raquel Romero, Lidia Fernández-Caballero, Pablo Mínguez, Marta Corton, Carmen Ayuso
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2024-10-01
Serija:	Frontiers in Genetics
Teme:	RPE65 gene Leber congenital amaurosis nanopore sequencing CRISPR retinitis pigmentosa
Online dostop:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1439153/full
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