Author

Jeremy A. Guggenheim

Cardiff UniversityORCID 0000-0001-5164-340XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:benchmarking· 2 Research Focus:gene regulatory network inference· 2 Assay:GWAS summary statistics· 2 Approach:deep learning· 1 Research Focus:differential expression· 1 Assay:imaging· 1

Frequent Co-Authors

Cathy WilliamsiD· 2 shared Pirro G. HysiiD· 2 shared Adam DiakiteiD· 1 shared Adnan TufailiD· 1 shared Alexander Clifford DayiD· 1 shared Alexander Doney· 1 shared Alfred PozarickijiD· 1 shared Alicja R. RudnickaiD· 1 shared

Activity by Year

2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Cathy WilliamsORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineInvestigative Ophthalmology & Visual SciencePeer-reviewedOct 31, 2025

Mendelian Randomization Studies of Myopia: Choosing the right Summary Statistics

Thu-Nga Nguyen, Louise Terry, Jeremy A. Guggenheim

This study shows that using different GWAS summary statistics in MR analyses of myopia can lead to inconsistent and misleading results.

4 citations

humanGWAS summary statistics

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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%

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GeneticsbioRxivPreprintNov 29, 2018

Non-uniform genetic effect sizes of variants associated with refractive error suggests gene-gene or gene-environment interactions are pervasive

Alfred Pozarickij, Cathy Williams, Pirro G. Hysi, Jeremy A. Guggenheim

The paper shows that most genetic variants associated with refractive error exhibit non-uniform effect sizes, suggesting widespread gene-gene or gene-environment interactions.

DOI 10.1101/483008

humanGWAS summary statistics

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