Resolving Complex Retinal Alleles via Long-Read Sequencing
This case report discusses how long-read sequencing enables phasing and complements clinical testing to provide a complete genetic diagnosis in TYR -associated oculocutaneous albinism.
Authors
- Debarshi Mustafi (ORCID: https://orcid.org/0000-0002-9164-7488)
- Behrouz Rahimi
- Kazuo Nakamichi (ORCID: https://orcid.org/0000-0001-7594-2607)
- Samson Darrah
- Jennifer Cech
- Elizabeth Rooks
Institutions
- Seattle Children's Hospital (US)
- University of Washington (US)
Publication Details
- Journal
- JAMA Ophthalmology
- Published
- 2025-12-26
- DOI
- https://doi.org/10.1001/jamaophthalmol.2025.5375
- Primary Topic
- melanin and skin pigmentation
- Type
- article
- Field-Weighted Citation Impact
- 0.00