Stoehr, Heidi and Weber, Bernhard H. F. (2025) Genetics and diagnostics of inherited retinal diseases in the era of whole genome sequencing. MEDIZINISCHE GENETIK, 37 (1). pp. 3-10. ISSN 0936-5931, 1863-5490
Full text not available from this repository. (Request a copy)Abstract
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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | DOMINANT RETINITIS-PIGMENTOSA; CAROLINA MACULAR DYSTROPHY; VARIANTS; MUTATIONS; inherited retinal disease; diagnostic yield; whole genome sequencing; structural variants; deep intronic variants |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 19 May 2026 08:29 |
| Last Modified: | 19 May 2026 08:29 |
| URI: | https://pred.uni-regensburg.de/id/eprint/65835 |
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