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USH genes sequencing

Sequencing of a panel including the whole genomic sequence of Usher genes.

Type: Whole Genome Sequencing
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000000687	This is a Next Generation Sequencing approach based on whole Usher Syndrome genes sequencing with the aim of diagnosing USH patients and USH2A-associated RP patients	Illumina MiSeq NextSeq 500	44

Publications	Citations
Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome. García-Bohórquez B, Barberán-Martínez P, Aller E, Jaijo T, Mínguez P, Rodilla C, Fernández-Caballero L, Blanco-Kelly F, Ayuso C, Sanchis-Juan A, Broekman S, de Vrieze E, van Wijk E, García-García G, Millán JM. Mol Ther Nucleic Acids 35: 2024 102374	2