Genetics and diagnostics of inherited retinal diseases in the era of whole genome sequencing.

• Tác giả: Heidi Stöhr, Bernhard H F Weber
• Ngôn ngữ: eng
• Ký hiệu phân loại: 296.36 Ethics
• Thông tin xuất bản: Germany : Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V , 2025
• Bộ sưu tập: NCBI
• ID: 185497

Tóm tắt

Inherited retinal diseases are clinically and genetically highly heterogeneous conditions with many phenotypic overlaps, syndromic presentations and atypical manifestations. This article is a narrative review that offers an overview of the technical advancements improving the accuracy and efficiency of molecular genetic diagnostics for hereditary disorders in clinical practice. It focuses particularly on the integration of whole genome sequencing (WGS) into routine diagnostics, critically evaluating its potential by discussing recent data from cohort studies conducted worldwide.