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Deep learning detection of retinitis pigmentosa inheritance forms through synthetic data expansion of a rare disease dataset.

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Title: Deep learning detection of retinitis pigmentosa inheritance forms through synthetic data expansion of a rare disease dataset.
Authors: Hwang EE; Department of Ophthalmology, University of California, San Francisco, San Francisco, CA, USA., Rivera ML; Department of Ophthalmology, University of California, San Francisco, San Francisco, CA, USA., Lin MT; Department of Ophthalmology, University of California, San Francisco, San Francisco, CA, USA., Zéboulon P; Department of Ophthalmology, University of California, San Francisco, San Francisco, CA, USA.; Department of Corneal and refractive surgery, Rothschild Foundation Hospital, Paris, France., Nachnani K; Department of Ophthalmology, University of California, San Francisco, San Francisco, CA, USA., Yuan O; Department of Ophthalmology, University of California, San Francisco, San Francisco, CA, USA., Madaan P; Department of Ophthalmology, University of California, San Francisco, San Francisco, CA, USA., Han Y; Department of Ophthalmology, University of California, San Francisco, San Francisco, CA, USA., Duncan JL; Department of Ophthalmology, University of California, San Francisco, San Francisco, CA, USA., Jia L; Digillect LLC, San Francisco, CA, USA. linjia@digillect.me., Shan J; Department of Ophthalmology, University of California, San Francisco, San Francisco, CA, USA. jing.shan@ucsf.edu.
Source: Scientific reports [Sci Rep] 2026 Apr 11; Vol. 16 (1). Date of Electronic Publication: 2026 Apr 11.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
Database: MEDLINE Ultimate
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              Text: 2026 Apr 11
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