Author

Jane Gibson

European Bioinformatics InstitutePrimary ORCID profile (0000-0002-0973-8285 · 2 papers)Unclaimed ORCID profile · follow to get notified of new preprints

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Same name, identified by ORCID

Jane GibsoniD2 papers · Cancer Research UK

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Approach:deep learning· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Assay:imaging· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Sarah EnnisiD· 2 shared A.P. Williams· 1 shared Adam DiakiteiD· 1 shared Adnan TufailiD· 1 shared Alexander Clifford DayiD· 1 shared Alexander Doney· 1 shared Alicja R. RudnickaiD· 1 shared Alison J. HardcastleiD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersBioinformatics

Sarah EnnisORCID

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2 papers

Recent·Most cited

SMART: A Somatic Mutation Annotation and Reporting Tool for cancer genomics

M. Dominguez, Ian G. Reddin, Jane Gibson, Manikanta Rudraraju, Kaine Veal, Christopher Kipps, A.P. Williams, Sarah Ennis

SMART annotates and reports somatic mutations in cancer genomics by integrating OncoKB and other databases into a VCF-based workflow with three-tier transcript prioritisation.

bioRxiv · Jul 19, 2026 · PreprintBioinformatics

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

Panagiotis I. Sergouniotis, Adam Diakite, Kumar Gaurav, Naomi Allen, Tariq Mehmood Aslam, Denize Atan, Sarah Ann Barman, Jenny Barrett, Paul Bishop, Graeme Charles M. Black, Tasanee Braithwaite, Roxana Carare, Usha Chakravarthy, Michelle P. Y. Chan, Sharon Y. L. Chua, , 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.

Bioinformatics · Dec 5, 2024Peer-reviewedGenetic & Genomic Medicine