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Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients

Summary: Inherited retinal diseases (IRDs) are a group of rare monogenic diseases with high genetic heterogeneity (pathogenic variants identified in over 280 causative genes). The genetic diagnostic rate for IRDs is around 60%, mainly thanks to the routine application of next-generation sequencing (...

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Tallennettuna:
Päätekijät: Roberta Zeuli, Marianthi Karali, Suzanne E. de Bruijn, Kim Rodenburg, Margherita Scarpato, Dalila Capasso, Galuh D.N. Astuti, Christian Gilissen, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Francesco Testa, Francesca Simonelli, Frans P.M. Cremers, Sandro Banfi, Susanne Roosing
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2024-07-01
Sarja:HGG Advances
Aiheet:
WGS
inherited retinal diseases
IRD
unsolved monoallelic cases
deep intronic variants
DIVs
Linkit:http://www.sciencedirect.com/science/article/pii/S2666247724000538
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