Author

Graham Stuart

University Hospitals Bristol NHS Foundation TrustORCID 0000-0003-2789-2216Unclaimed 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 Approach:deep learning· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alex Vincent PostmaiD· 1 shared Alexander J. SparrowiD· 1 shared Alistair T. PagnamentaiD· 1 shared Amy TrebesiD· 1 shared Ana TöpfiD· 1 shared Anuj GoeliD· 1 shared Barbara J.M. MulderiD· 1 shared Benjamin DaviesiD· 1 shared

Activity by Year

2018-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Alex Vincent PostmaORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 20, 2024

An autosomal dominant cardiac arrhythmia syndrome, ST Depression Syndrome, is caused by the de novo creation of a cardiomyocyte enhancer.

Carin P. de Villiers, Damien J. Downes, Anuj Goel…·Hugh C Watkins

The paper identifies a de novo enhancer mutation in KCNB1 causing ST Depression Syndrome, a cardiac arrhythmia, and shows it can be predicted by a deep neural network.

DOI 10.1101/2024.08.20.24312115

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintApr 13, 2018

Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

Donna J. Page, Matthieu J. Miossec, Simon G. Williams…·Bernard D. Keavney

The paper identifies NOTCH1 variants as a major genetic contributor to non-syndromic Tetralogy of Fallot, with 6% of patients carrying deleterious variants.

DOI 10.1101/300905

humanwhole-exome sequencing

𝕏 PostBluesky