Author

Antonia Kolovos

Flinders UniversityORCID 0000-0001-6618-0137Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:GWAS / association mapping· 2 Approach:statistical model· 2 Approach:deep learning· 1 Research Focus:gene regulatory network inference· 1 Assay:GWAS summary statistics· 1 Assay:imaging· 1

Frequent Co-Authors

Alex William HewittiD· 3 shared Anthony P. KhawajaiD· 3 shared David Anthony MackeyiD· 3 shared Jamie E. CraigiD· 3 shared Janey L. WiggsiD· 3 shared Joshua M. SchmidtiD· 3 shared Louis Robert PasqualeiD· 3 shared Puya GharahkhaniiD· 3 shared

Activity by Year

2026-2026 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Alex William HewittORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 10, 2026

Genetic discovery using deep learning-derived optic nerve integrity phenotypes

Asma M. Aman, Eslam Zaher, Santiago Díaz‐Torres…·Puya Gharahkhani

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

DOI 10.64898/2026.09.08.26362398

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintFeb 10, 2026

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

Asma M. Aman, Santiago Díaz‐Torres, Samantha Sze‐Yee Lee…·Puya Gharahkhani

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

1 citation

humanGWAS summary statistics

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Genetic & Genomic MedicinemedRxivPreprintJan 24, 2026

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

Stuart MacGregor, Guiyan Ni, Mathias Seviiri…·Jamie E. Craig

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.

2 citations

humanstatistical model

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