Tin Aung

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.

Bruch's Membrane Contributes to the Structural Integrity of the Human Eye

This study investigates the structural contribution of Bruch's membrane and sclera to the ocular wall by comparing their biomechanical properties under tension.

Iris Morphological and Biomechanical Factors Influencing Angle Closure During Pupil Dilation

This study uses finite element analysis to identify iris and anterior chamber factors influencing angle closure during pupil dilation, finding that smaller anterior chamber depth and width, and larger iris thickness and convexity increase angle narrowing.

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

Exome sequencing in Asian populations identifies rare deficient SMPD1 alleles that increase risk of Parkinson's disease

The paper identifies rare SMPD1 variants in Asian populations that increase Parkinson's disease risk through exome sequencing and functional assays.

RAPTOR: A Five-Safes approach to a secure, cloud native and serverless genomics data repository

RAPTOR provides a secure, cloud-native genomics repository with a five-safes framework to ensure compliance and data protection for genomic research.

Distribution of rare LOXL1 missense alleles, haplotypes and diplotypes suggests association with reduced risk of glaucoma-related exfoliation syndrome.

The paper identifies rare protective LOXL1 missense variants and shows their haplotypes and diplotypes are associated with reduced risk of exfoliation syndrome and 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.

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

Large-scale whole-genome sequencing of three diverse Asian populations in Singapore

This study presents whole-genome sequencing data from 4,810 Singaporeans across three ethnic groups, revealing genetic structure, admixture, and improved imputation for Asian and Oceanian populations.