Puya Gharahkhani

Genetic discovery using deep learning-derived optic nerve integrity phenotypes

The paper uses AI-derived retinal thickness phenotypes from 2D images to identify novel genetic loci for neurodegenerative diseases.

Genome-wide association study of corneal dystrophy uncovers novel risk loci and enables improved polygenic prediction of Fuchs endothelial corneal dystrophy

This paper identifies 24 risk loci for corneal dystrophy, constructs polygenic risk scores (PRS) and STR-based models, and shows PRS improves FECD prediction, while STR expansion is the strongest predictor.

Uncovering the Genetic Architecture of Optic Nerve Integrity Estimates through Genome-wide Association Study Meta-analyses

This study performs genome-wide association meta-analyses on optic nerve structure biomarkers, identifying novel loci and potential drug targets independent of intraocular pressure.

Step change in glaucoma polygenic risk score performance enables clinical utility and disease prediction across all major ancestries

This paper develops a polygenic risk score for glaucoma with improved performance across major ancestries, enabling earlier detection and targeted treatment of high-risk individuals.

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

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

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.

Automated AI labelling of optic nerve head enables new insights into cross-ancestry glaucoma risk and genetic discovery in over 280,000 images from the UK Biobank and Canadian Longitudinal Study on Aging

The paper uses AI to label optic nerve head images, enabling cross-ancestry genetic studies and identifying over 200 new loci associated with glaucoma risk.

Assessment of Polygenic Architecture and Risk Prediction based on Common Variants Across Fourteen Cancers

This study assesses polygenicity and risk prediction using common variants across 14 cancers, finding varying numbers of susceptibility variants and risk score effectiveness.

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

Bivariate genome-wide association analysis strengthens the role of bitter receptor clusters on chromosomes 7 and 12 in human bitter taste

This study performs a bivariate GWAS to identify new common variants influencing bitter taste perception, finding small-effect SNPs on chromosomes 7 and 12.

Genomic Locus Modulating Corneal Thickness in the Mouse Identifies POU6F2 as a Potential Risk of Developing Glaucoma

The paper identifies a genomic locus modulating corneal thickness in mice and links it to POU6F2, a potential risk factor for glaucoma.