Author

DAVID H. STEEL

Newcastle UniversityORCID 0000-0001-8734-3089Unclaimed 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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Organism:human· 2 Research Focus:benchmarking· 1 Research Focus:cell type annotation· 1 Approach:deep learning· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:imaging· 1

Frequent Co-Authors

Martin McKibbiniD· 2 shared Adam DiakiteiD· 1 shared Adnan TufailiD· 1 shared Adriana BuskiniD· 1 shared Alastair DroopiD· 1 shared Alexander Clifford DayiD· 1 shared Alexander Doney· 1 shared Alicja R. RudnickaiD· 1 shared

Activity by Year

2017-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Martin McKibbinORCID

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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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GeneticsbioRxivPreprintDec 11, 2017

Human iPSC-derived RPE and retinal organoids reveal impaired alternative splicing of genes involved in pre-mRNA splicing in PRPF31 autosomal dominant retinitis pigmentosa

Adriana Buskin, Lili Zhu, Valeria Chichagova…·Majlinda Lako

The paper generates patient-specific retinal organoids and RPE from RP type 11 patients to show PRPF31 mutations cause retinal-specific splicing defects and structural/functional impairments, which are corrected by in situ gene editing.

5 citations

humanscRNA-seq

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