Limitations of short-read NGS in detecting <i>RP1 Alu</i> insertions: a case emphasizing Sanger confirmation
Short-read sequencing technologies, including the IRD panel and WES, have limitations in detecting short interspersed nuclear elements such as the <i>RP1 Alu</i> insertion. This case emphasizes the importance of manual IGV review and the necessity of confirmatory Sanger sequencing when such structural variants are suspected despite negative automated analyses.
Authors
- Yuichi Ikeda (ORCID: https://orcid.org/0000-0002-9929-3813)
- Mineo Kondo (ORCID: https://orcid.org/0000-0003-4569-1792)
- Takaaki Hayashi (ORCID: https://orcid.org/0000-0002-1535-0279)
- Harufumi Maki (ORCID: https://orcid.org/0000-0002-9032-1371)
- Kazuki Kuniyoshi (ORCID: https://orcid.org/0000-0003-0242-5662)
- Hirotomo Saitsu (ORCID: https://orcid.org/0000-0003-0723-0960)
- Kei Mizobuchi (ORCID: https://orcid.org/0000-0001-5389-6507)
- Natsuki Higa
Institutions
- Jikei University School of Medicine (JP)
- Mie University (JP)
- Hamamatsu University School of Medicine (JP)
- Kindai University (JP)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-11-25
- DOI
- https://doi.org/10.1080/13816810.2025.2590162
- Primary Topic
- Nuclear Structure and Function
- Type
- article
- Field-Weighted Citation Impact
- 0.00