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University of Exeter Medical School

Dr Garan Jones

Dr Garan Jones

Postdoctoral Research Fellow

 College House 1.07


College House, University of Exeter, St Luke's Campus, Heavitree Road, Exeter, EX1 2LU, UK


I joined Public Health England (formerly the Health Protection Agency) in 2008 as a Bioinformatician working with the European Working Group on Legionella Infection (EWGLI), specialising in sequence based typing of Legionella. In late 2009, I moved groups to the Gastrointestinal, Enteric and Zoonotic Infections (GEZI) department as a Bioinformatician focused on the epidemiology of various pathogen outbreaks including Escherichia Coli, Campylobacter Jejuni and zoonotic pathogens. This was followed in 2012 with a relocation to the Wellcome Trust Sanger Institute in Cambridge as a Senior Developer, before moving to Exeter to complete an MRes in Bioinformatics. Following which I spent 4 years working in Clinical Bioinformatics with the NHS based at the Royal Devon & Exeter, mainly working on Targeted / Exome Next Generation Sequencing and rare disease analysis. 

I completed a PhD with Prof. Melzer's group (co-supervised by Dr. Luke Pilling) on Ageing and the effects of muscle wastage or sacropenia with age at the University of Exeter. Then in 2021 moved to the University of Bristol to work on the maternal genetic contributions to Cleft palette, before returning to the University of Exeter in early 2022 to take up a post as a Postdoctoral Research Fellow researching various cancer types using methylation and long read sequencing data as part of Prof. Chrissie Thirlwell's group. 

My research focuses on the genomics and transcriptomics of Neuroendocrine tumours, with a particular focus on long read sequencing technologies and methylation arrays, in order to study structural variants and novel splicing isomers.


  • BSc(Hons) Molecular Cell Biology, University of Southampton
  • PgDip Medical Molecular Genetics, Aberdeen University
  • MSc Computer Science, University of Swansea
  • MRes Bioinformatics, University of Exeter
  • PhD Medical Studies, University of Exeter

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Research interests

Neuroendocrine and various other cancer types, utilising Oxford Nanopore long read data and EPIC arrays. 

UK Biobank analysis looking at the associations between genotypes and phenotypes related to aging, such as Sarcopenia and low lung function.

Inflammation and its impact on aging; Rare disease and sequencing; Bioinformatics; Research software development

Research networks

UK and Ireland Neuroendocrine Tumour Society (UKINETS)

CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology)

Research grants

  • 2022 Neuroendocrine Cancer UK
    ONT long read sequencing of transcriptomes of SI-NET / Pancreatic NET and controls for discovery of dysregulation of alternate splicing.

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Journal articles

Gautvik KM, Olstad OK, Raue U, Gautvik VT, Kvernevik KJ, Utheim TP, Ravnum S, Kirkegaard C, Wiig H, Jones G, et al (2022). Heavy-load exercise in older adults activates vasculogenesis and has a stronger impact on muscle gene expression than in young adults. EUROPEAN REVIEW OF AGING AND PHYSICAL ACTIVITY, 19(1).  Author URL.
Jones G, Trajanoska K, Santanasto AJ, Stringa N, Kuo C-L, Atkins JL, Lewis JR, Duong T, Hong S, Biggs ML, et al (2021). Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women. Nature Communications, 12(1). Abstract.
Chapman LM, Spies N, Pai P, Lim CS, Carroll A, Narzisi G, Watson CM, Proukakis C, Clarke WE, Nariai N, et al (2020). A crowdsourced set of curated structural variants for the human genome. PLOS Computational Biology, 16(6), e1007933-e1007933.
Jones G, Trajanoska K, Santanasto AJ, Stringa N, Kuo C-L, Atkins JL, Lewis JR, Duong T, Hong S, Biggs ML, et al (2020). Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women. Abstract.
Jones G, Pilling LC, Kuo C-L, Kuchel G, Ferrucci L, Melzer D (2020). Sarcopenia and Variation in the Human Leukocyte Antigen Complex. J Gerontol a Biol Sci Med Sci, 75(2), 301-308. Abstract.  Author URL.
Pilling L, Tamosauskaite J, Jones G, Wood A, Jones L, Kuo C-L, Kuchel G, Ferrucci L, Melzer D (2019). Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank. BMJ
Stals KL, Wakeling M, Baptista J, Caswell R, Parrish A, Rankin J, Tysoe C, Jones G, Gunning AC, Lango Allen H, et al (2018). Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. Prenat Diagn, 38(1), 33-43. Abstract.  Author URL.
Parrish A, Caswell R, Jones G, Watson CM, Crinnion LA, Ellard S (2017). An enhanced method for targeted next generation sequencing copy number variant detection using ExomeDepth. Wellcome Open Research, 2, 49-49. Abstract.
De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, et al (2017). Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts. Diabetes, 66(7), 2044-2053. Abstract.  Author URL.
Underwood AP, Jones G, Mentasti M, Fry NK, Harrison TG (2013). Comparison of the Legionella pneumophila population structure as determined by sequence-based typing and whole genome sequencing. BMC Microbiol, 13 Abstract.  Author URL.

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External Engagement and Impact

External positions

Lead Editor - STP Clinical Bioinformatics 2019-2020 curriculum review

  • Review syllabus content for 3-year National Healthcare School MSc training scheme

  • Production of update syllabus for 2020 onwards

  • Act as facilitator for stakeholder meetings


Association of Clinical Genomics member / British Society for Genetic Medicine member

Bioinformatics representative for the ACGS Workforce development committee 2015-2017

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