Article
Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies.
Advances in experimental medicine and biology - 1 Jan 2019
Gonzàlez-Duarte Roser, de Castro-Miró Marta, Tuson Miquel, Ramírez-Castañeda Valeria, Gils Rebeca Valero, Marfany Gemma
Abstract excerpt
During the last 20 years, our group has focused on identifying the genes and mutations causative of inherited retinal dystrophies (IRDs). By applying massive sequencing approaches (NGS) in more than 500 familial and sporadic cases, we attained high diagnostic efficiency (85%) with a custom target gene panel and over 75% using whole exome sequencing (WES). Close to 40% of pathogenic alleles are novel mutations,...
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