ArticleAmerican journal of human genetics2021
Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology.
Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.
- Genome-wide analysis of genetic pleiotropy and causal genes across three age-related ocular disorders.Human genetics · 2023Pooled it
- Genetic discovery using deep learning-derived optic nerve integrity phenotypes.medRxiv : the preprint server for health sciences · 2026Article
- A Primary Open-Angle Glaucoma Locus Near Transcription FactorOphthalmology science · 2026Article
- Hundreds of cardiac MRI traits derived using 3D diffusion autoencoders share a common genetic architecture.Nature communications · 2026Article
- Genome-wide discovery reveals 30 loci for choroidal thickness and uncovers potential causal links with angle-closure glaucoma.medRxiv : the preprint server for health sciences · 2026Article
- An Artificial Intelligence Method for Phenotyping of OCT-Derived Thickness Maps Using Unsupervised and Self-supervised Deep Learning.Journal of imaging informatics in medicine · 2026Article
- Evaluation of Statistical Methods for Clustered Eye Data with Skewed Distribution.Ophthalmology science · 2026Article
- Exploring the Shared Genetic Architectures Between Primary Open-Angle Glaucoma and Visual Pathway Regions in the Brain.Investigative ophthalmology & visual science · 2025Article
- Genotype-by-sex interaction analyses for alcohol use disorder across biobanks.Alcohol, clinical & experimental research · 2025Article
- Multimodal Prediction of Primary Open-Angle Glaucoma Using Polygenic Risk Scores and Clinical Features in a High-Risk African Ancestry Cohort.medRxiv : the preprint server for health sciences · 2025Article
- NeoNet: A Novel Deep Learning Model for Retinal Disease Diagnosis and Localization.Sensors (Basel, Switzerland) · 2025Article
- Applying multimodal AI to physiological waveforms improves genetic prediction of cardiovascular traits.American journal of human genetics · 2025Article
- Artificial Intelligence in Glaucoma: Advances in Diagnosis, Progression Forecasting, and Surgical Outcome Prediction.International journal of molecular sciences · 2025Review
- Genetic association studies using disease liabilities from deep neural networks.American journal of human genetics · 2025Article
- Multi-omic spatial effects on high-resolution AI-derived retinal thickness.Nature communications · 2025Article
- Article
- A scoping review of advancements in machine learning for glaucoma: current trends and future direction.Frontiers in medicine · 2025Article
- Structural framework to address variant-gene relationship in primary open-angle glaucoma.Vision research · 2025Review
- Valid inference for machine learning-assisted genome-wide association studies.Nature genetics · 2024Article
- Prediction, prognosis and monitoring of neurodegeneration at biobank-scale via machine learning and imaging.medRxiv : the preprint server for health sciences · 2024Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
Abstract
Genome-wide association studies (GWASs) require accurate cohort phenotyping, but expert labeling can be costly, time intensive, and variable. Here, we develop a machine learning (ML) model to predict glaucomatous optic nerve head features from color fundus photographs. We used the model to predict vertical cup-to-disc ratio (VCDR), a diagnostic parameter and cardinal endophenotype for glaucoma, in 65,680 Europeans in the UK Biobank (UKB). A GWAS of ML-based VCDR identified 299 independent genome-wide significant (GWS; p ≤ 5 × 10
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.