The paper uses an autoencoder to derive retinal phenotypes from OCT images, identifies 118 genetic loci, and shows their relevance to retinal morphology and disease prediction.

Bioinformatics · Dec 5, 2024Peer-reviewedGenetic & Genomic Medicine

Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma

Andrew R. Hamel, Wenjun Yan, John M. Rouhana, Aboozar Monavarfeshani, Xinyi Jiang, Puja A. Mehta, Jayshree Advani, Yuyang Luo, Qingnan Liang, Skanda Rajasundaram, Arushi Shrivastava, Katherine Duchinski, Sreekar Mantena, Jiali Wang, Tavé A. van Zyl, , Ayellet V. Segrè

Nature Communications · Jan 9, 2024Peer-reviewedGenetic & Genomic Medicine

Genetic variation affects morphological retinal phenotypes extracted from UK Biobank Optical Coherence Tomography images

Hannah Currant, Pirro G. Hysi, Tomas W. Fitzgerald, Puya Gharahkhani, Pieter W. M. Bonnemaijer, Anne Senabouth, Alex William Hewitt, Denize Atan, Tin Aung, Jason Charng, Hélène Choquet, Jamie E. Craig, Peng Tee Khaw, Caroline C. W. Klaver, Michiaki Kubo, , Anthony P. Khawaja

The paper identifies 46 genetic loci associated with retinal thickness using OCT images from UK Biobank, finding new links to foveal hypoplasia and visual acuity.

PLoS Genetics · May 12, 2021Peer-reviewedGenetic & Genomic Medicine

A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a genetic link with Alzheimer's disease

Puya Gharahkhani, Eric Jorgenson, Pirro G. Hysi, Anthony P. Khawaja, Sarah A. Pendergrass, Xikun Han, Jue‐Sheng Ong, Alex William Hewitt, Ayellet V. Segrè, Robert P. Igo, Hélène Choquet, Ayub Qassim, Navya Shilpa Josyula, Jessica N. Cooke Bailey, Pieter W. M. Bonnemaijer, , Janey L. Wiggs

bioRxiv · Jan 30, 2020 · PreprintGenetics