Online Tools and Datasets

Phenopolis Genome Browser

An open-source platform for harmonization and analysis of genetic and phenotypic data.

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Phenogenon

Gene to phenotype associations for rare genetic diseases.

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Fundus2Gender

Comparing AI to human performance in the task of distinguishing male from female fundus images.

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Collagen cross-linking progression calculator for keratoconus

Predicts when collagen cross-linking (CXL) will likely be needed by a keratoconus patient based on their cornea and age at presentation.

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Spectrum of genetic variants in the commonest genes causing inherited retinal disease in a large molecularly characterised UK cohort

The full list of curated genetic variants published in our paper. If you use this data please cite the publication: Lin, S., et al. (2024). Spectrum of genetic variants in the commonest genes causing inherited retinal disease in a large molecularly characterised UK cohort. Ophthalmology. Retina.

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We are always eager for hard-working & motivated people to come and work with us.

If you're interested in joining us, please send Nikolas Pontikos a quick email with a CV and personal statement