Author

R Mark Beattie

Southampton Children's HospitalORCID 0000-0003-4721-0577Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:clustering· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

James John AshtoniD· 3 shared Sarah EnnisiD· 3 shared Guo ChengiD· 2 shared Alexandre Zacharie KadhimiD· 1 shared Andrew R CollinsiD· 1 shared Ben D. MacArthuriD· 1 shared Enrico MossottoiD· 1 shared Fernando LopeziD· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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3 shared papersBioinformatics

James John AshtonORCID

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3 papers

Recent·Most cited

BioinformaticsbioRxivPreprintOct 12, 2026

Characterisation of Genetically-Derived Patient Clusters Highlights Genetic Heterogeneity of Inflammatory Bowel Disease

Fernando Lopez, Alexandre Zacharie Kadhim, Zachary Green…·James John Ashton

The paper uses GenePy scores and clustering to identify genetic clusters in IBD patients, finding NOD2 and NLRP1 as significant drivers with phenotypic associations.

DOI 10.64898/2026.10.05.754100

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintApr 19, 2024

Moving from GWAS signals to rare functional variation in inflammatory bowel disease through application of GenePy2 as a potential DNA biomarker

Guo Cheng, James John Ashton, Andrew R Collins…·Sarah Ennis

This paper applies GenePy2.0 to identify genomic biomarkers in IBD by analyzing GWAS signals and detecting risk/protective variants in large cohorts.

DOI 10.1101/2024.04.19.24306093

humanGWAS summary statistics

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GenomicsBMC BioinformaticsPeer-reviewedMay 16, 2019

GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data

Enrico Mossotto, James John Ashton, Luke O’Gorman…·Sarah Ennis

GenePy estimates gene-level pathogenicity from whole-exome sequencing data by combining mutational burden and biological impact, demonstrating improved sensitivity in identifying causal genes in common diseases.

33 citations

humanwhole-exome sequencing

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