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Updated: Aug 20, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Next-generation sequencing in ophthalmology]
Julian Wolf1,2,3, Clemens Lange1,2,4, Thomas Reinhard1,2
1Klinik für Augenheilkunde, Universitätsklinikum Freiburg, Killianstr. 5, 79106, Freiburg, Deutschland.
Abstract:
New methods for basic research are finding their way into ophthalmology and expand the options for research, diagnostics and treatment. This article centers on the study of gene activity in cells and tissues by next-generation sequencing (NGS). Following a brief introduction to the basic principles of NGS, this article focuses on transcriptome analysis by RNA sequencing using examples from ophthalmology. The RNA sequencing provides a comprehensive and unbiased overview of gene activity in cells and tissues and thus forms an important foundation for generating new testable scientific hypotheses. It thus contributes to the in-depth characterization of pathological changes and supports the development of new diagnostic and therapeutic approaches.
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