Imaging and Genetic Data Integration Uncovers Retinal Disease Trajectories

Macular Telangiectasia type II (MacTel) is a rare retinal degenerative disease that results in progressive vision loss. By applying trajectory inference on clinical phenotypic data taken from patients with MacTel, we identify two trajectories with distinct phenotypic characteristics. We also find a SNP significantly associated with one of the two trajectories.

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Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-05-05
DOI
https://doi.org/10.5281/zenodo.17344961
Primary Topic
Retinal Diseases and Treatments
Type
article
Field-Weighted Citation Impact
0.00
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article

Imaging and Genetic Data Integration Uncovers Retinal Disease Trajectories

Zenodo (CERN European Organization for Nuclear Research)
Retinal Diseases and Treatments
article

Imaging and Genetic Data Integration Uncovers Retinal Disease Trajectories

article en

Abstract

Macular Telangiectasia type II (MacTel) is a rare retinal degenerative disease that results in progressive vision loss. By applying trajectory inference on clinical phenotypic data taken from patients with MacTel, we identify two trajectories with distinct phenotypic characteristics. We also find a SNP significantly associated with one of the two trajectories.

Zenodo (CERN European Organization for Nuclear Research)
Scripps Research Institute (US), University of Bonn (DE), Walter and Eliza Hall Institute of Medical Research (AU), The Lowy Medical Research Institute (US)
Openalex Percentile: Top 36%
Retinal Diseases and Treatments
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