Back to search

Article

Eye2Gene: prediction of causal inherited retinal disease gene from multimodal imaging using deep-learning

2022-10-25

Abstract excerpt

<title>Abstract</title><p>Rare eye diseases such as inherited retinal diseases (IRDs) are challenging to diagnose genetically. IRDs are typically monogenic disorders and represent a leading cause of blindness in children and working-age adults worldwide. A growing number are now being targeted in clinical trials, with approved treatments increasingly available. However, access requires a genetic diagnosis to be es...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
8892bcd9-0e7c-5d61-8e27-591d36713212
DOI
10.21203/rs.3.rs-2110140/v1
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Eye2Gene: prediction of causal inherited retinal disease gene from multimodal imaging using deep-learningDOI 10.21203/rs.3.rs-2110140/v1
Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniquesSemantic proximity
Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning TechniquesSemantic proximity
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal GenesSemantic proximity
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.Semantic proximity
The Diagnostic Yield of Next Generation Sequencing in Inherited Retinal Diseases: A Systematic Review and Meta-analysis.Semantic proximity
Retinograd-AI: An Open-source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal DystrophiesSemantic proximity
Identification and analysis of inherited retinal disease genes.Semantic proximity
Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities.Semantic proximity
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.Semantic proximity
Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene PollSemantic proximity
Deep learning detection of retinitis pigmentosa inheritance forms through synthetic data expansion of a rare disease dataset.Semantic proximity
Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype AssociationsSemantic proximity
Select a neighboring publication to make it the new centre.