Author

Praveen J. Patel

Moorfields Eye Hospital NHS Foundation TrustORCID 0000-0001-8682-4067Unclaimed 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 Assay:imaging· 3 Approach:statistical model· 3 Research Focus:GWAS / association mapping· 2 Research Focus:benchmarking· 1 Approach:deep learning· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Anthony P. KhawajaiD· 3 shared Ewan BirneyiD· 3 shared Tomas W. FitzgeraldiD· 3 shared Christopher J. HammondiD· 2 shared Denize AtaniD· 2 shared Hannah CurrantiD· 2 shared Paul J. FosteriD· 2 shared Peng Tee KhawiD· 2 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 44 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Anthony P. KhawajaORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineBioinformaticsPeer-reviewedDec 5, 2024

Autoencoder-based phenotyping of ophthalmic images highlights genetic loci influencing retinal morphology and provides epidemiologically informative biomarkers.

Panagiotis I. Sergouniotis, Adam Diakite, Kumar Gaurav…·Tomas Fitzgerald

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.

18 citationstop 4%

humanimaging

Genetic & Genomic MedicinePLoS GeneticsPeer-reviewedFeb 27, 2023

Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation

Hannah Currant, Tomas W. Fitzgerald, Praveen J. Patel…·Ewan Birney

The paper identifies genetic variants associated with photoreceptor layer thickness using OCT data from UK Biobank, revealing a continuum between normal variation and rare disease.

24 citations

humanimaging

Genetic & Genomic MedicinePLoS GeneticsPeer-reviewedMay 12, 2021

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

Hannah Currant, Pirro G. Hysi, Tomas W. Fitzgerald…·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.

116 citationstop 1%

humanimaging