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Article

Effectiveness of Whole-Exome Sequencing for the Identification of Causal Mutations in Patients with Suspected Inherited Ocular Diseases.

Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion - 1 Jan 2022

Ordoñez-Labastida Vianey, Montes-Almanza Luis, García-Martínez Froylan, Zenteno Juan C

Abstract excerpt

Background: Genetic eye disorders, affecting around one in 1000 people, encompass a diverse group of diseases causing severe visual deficiency. The recent adoption of next-generation sequencing techniques, including whole-exome sequencing (WES), in medicine has greatly enhanced diagnostic rates of genetically heterogeneous diseases. Objectives: The objectives of the study were to assess the diagnostic yield of...

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PMID: 36087940
DOI: 10.24875/RIC.22000107

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