[Despite Challenges and Pitfalls: How Ophthalmology Benefits from the Use of Next-Generation Sequencing]. / Herausforderungen und Fallstricken zum Trotz: Wie die Ophthalmologie von Next-Generation Sequencing profitiert.
Klin Monbl Augenheilkd
; 235(3): 258-263, 2018 Mar.
Article
in De
| MEDLINE
| ID: mdl-29390234
ABSTRACT
Within a few years, high-throughput sequencing (next-generation sequencing, NGS) has become a routine method in genetic diagnostics and has largely replaced conventional Sanger sequencing. The complexity of NGS data requires sound bioinformatic analysis:
pinpointing the disease-causing variants may be difficult, and erroneous interpretations must be avoided. When looking at the group of retinal dystrophies as an example of eye disorders with extensive genetic heterogeneity, one can clearly say that NGS-based diagnostics yield important information for most patients and physicians, and that it has furthered our knowledge significantly. Furthermore, NGS has accelerated ophthalmogenetic research aimed at the identification of novel eye disease genes.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ophthalmology
/
Sequence Analysis, DNA
/
Eye Diseases
/
High-Throughput Nucleotide Sequencing
Type of study:
Diagnostic_studies
/
Prognostic_studies
Language:
De
Journal:
Klin Monbl Augenheilkd
Year:
2018
Document type:
Article