Bolz, Hanno Joern (2018). Despite Challenges and Pitfalls: How Ophthalmology Benefits from the Use of Next-Generation Sequencing. Klinische Monatsblat. Augenheilkunde, 235 (3). S. 258 - 264. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-3999
Full text not available from this repository.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.
| Item Type: | Journal Article | ||||||||
| Creators: |
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| URN: | urn:nbn:de:hbz:38-194465 | ||||||||
| DOI: | 10.1055/s-0043-122076 | ||||||||
| Journal or Publication Title: | Klinische Monatsblat. Augenheilkunde | ||||||||
| Volume: | 235 | ||||||||
| Number: | 3 | ||||||||
| Page Range: | S. 258 - 264 | ||||||||
| Date: | 2018 | ||||||||
| Publisher: | GEORG THIEME VERLAG KG | ||||||||
| Place of Publication: | STUTTGART | ||||||||
| ISSN: | 1439-3999 | ||||||||
| Language: | German | ||||||||
| Faculty: | Unspecified | ||||||||
| Divisions: | Unspecified | ||||||||
| Subjects: | no entry | ||||||||
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| Refereed: | Yes | ||||||||
| URI: | http://kups.ub.uni-koeln.de/id/eprint/19446 |
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