ArticleResearch square2025
Recall by polygenic risk score in two biobanks supports a genomic approach for glaucoma detection.
Janey Wiggs, Louis Pasquale, Hetince Zhao, Nazlee Zebardast, Kanza Aziz, Yan Zhao, William Steidl, Jae Kang, James Tsai, Nicole Paulescu and 7 more
Abstract readPreprint
In one paragraphArticle in Research square, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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2 · The registryThe trial behind it
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4 · The recordCorrections and comments
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5 · Who and what moneyAuthors and funding
17 authors.
Hetince ZhaoDepartment of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York Eye and Ear Infirmary of Mount Sinai, New York, New York, USA.
Nazlee ZebardastMassachusetts Eye and Ear.
Yan ZhaoMassachusetts Eye and Ear.
William SteidlDepartment of Ophthalmology, IcIcahn School of Medicine at Mount Sinai, New York Eye and Ear Infirmary of Mount Sinai.
James TsaiDepartment of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York Eye and Ear Infirmary of Mount Sinai, New York, New York, USA.
Nicole PaulescuDepartment of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York Eye and Ear Infirmary of Mount Sinai, New York, New York, USA.
Michael BolandDepartment of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
Ha My VyIcahn School of Medicine at Mount Sinai.
David FriedmanDepartment of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
Funding
P30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Ayellet Vered Segre · 2002 to 2026
$15.1MUnderstanding the clinical impact of cumulative genetic risk to glaucomaR01EY032559 · NEI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Louis Robert Pasquale, Janey L Wiggs · 2021 to 2026
$4.3MTowards an integrated map of causal connections for common, complex diseasesR35GM124836 · NIGMS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Ron Do · 2017 to 2026
$3.9MMultiomic Framework for GlaucomaR01EY036460 · NEI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI JAE H KANG, Louis Robert Pasquale · 2024 to 2026
$2.4MGlaucoma Risk Prediction Using Machine Learning Integration of Image-Based Phenotypes and Genetic AssociationsK23EY032634 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI ZEBARDAST, NAZLEE · 2021 to 2024
$1.0MNEI NIH HHS K23 EY032634NEI NIH HHS P30 EY014104NEI NIH HHS R01 EY032559NEI NIH HHS R01 EY036460NIGMS NIH HHS R35 GM124836
6 · The paper itselfAbstract
Glaucoma is a highly heritable optic neuropathy and a leading cause of blindness; yet, glaucoma screening is challenging due to the time-consuming clinical methods required for disease identification and the imperfect accuracy of screening tests. We used genome-wide association study results to calculate a primary open angle glaucoma (POAG) polygenic risk score (PRS) for Mount Sinai Bio
Identifiers
PMID40799740
PMCPMC12340891
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