Author

Cathy Williams

European Bioinformatics InstituteORCID 0000-0002-9133-2021Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Jeremy A. GuggenheimiD· 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

2018-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Jeremy A. GuggenheimORCID

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2 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

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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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