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Liyin Chen

As seen in: Nature, Royal Society of Chemistry, BioRxiv, The American Journal of Human Genetics, medRxiv
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Articles

Deep-learning-derived glaucoma-related endophenotypes enable novel genome-wide genetic and functional discovery

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By Liyin Chen, Yan Zhao, Saber Kazeminasab Hashemabad, Tobias Elze, Mohammad H. Eslami, Mengyu Wang, Janey L. Wiggs, Ayellet V. Segrè, Nazlee Zebardast
| Nature Verified
Abstract The genetic architecture of primary open-angle glaucoma (POAG) remains largely unexplained due to the reliance of previous genome-wide association studies (GWAS) on imprecise phenotypes from electronic health records. We overcome this with a disease-trained, task-transfer machine learning (ML) framework that learns glaucoma-related damage patterns from a clinical repository of 18,985 optical coherence tomography (OCT) scans from 8323 glaucoma patients.
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Visual Field-Guided Entangled Identifies Clinically Distinct Glaucoma Endophenotypes and Novel Risk Loci

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By Mousa Moradi, Liyin Chen, Yan Zhao
| medRxiv
The authors have declared no competing interest. This work was supported by National Institutes of Health (5R01EY036518). I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: The Institutional Review Board at Mass General Brigham approved this retrospective study.
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Low population penetrance of variants associated with inherited retinal degenerations

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By Kirill Zaslavsky, Liyin Chen, Chloe M. Park, Emily M. Place, Seyedeh M Zekavat, Christopher Barile, Kinga M. Bujakowska, Elizabeth J. Rossin, Eric Pierce, Daniel Navarro-Gomez
| The American Journal of Human Genetics Verified
ArticleOnline nowOpen access 1Department of Ophthalmology and Vision Sciences, University of British Columbia, Vancouver, BC, Canada 2Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA 3Harvard Medical School Department of Ophthalmology, Massachusetts Eye and Ear, Boston, MA, USA 4The Broad Institute of Harvard and MIT, Cambridge, MA, USA Publication History: Received August 5, 2025; Accepted November 25, 2025; Published online December 22, 2025 DOI:...
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