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Dr Reuben J Pengelly MBiol (hons), PhD, FHEA

Principal Teaching Fellow

Dr Reuben J Pengelly
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MSc Genomics

Dr Reuben Pengelly is Principal Teaching Fellow within the Faculty of Medicine at the University of Southampton.

Working to understand the differences between pathogenic and benign genetic variation, supporting the translation of genomics into clinical care.

Reuben was appointed to his lectureship in 2017. His research focuses on the application of computational tools for the analysis and interpretation of genomic data, such as the identification of disease genes and interpretation of variants of uncertain significance. Aligned to this, his research investigates population genetics, and the utility of this to medical genetics.

A graduate of the University of Bath, Reuben joined the Genomic Informatics group for his PhD at the University of Southampton in 2012. He investigated approaches for the analysis of NGS data for medical and population genetics studies, under the supervision of Professors Sarah Ennis, Andrew Collins, and Dr Jane Gibson. Following his PhD, Reuben continued as a Research Fellow, working within the Wessex Clinical Exome Pilot, providing bioinformatic support for NHS service development, and working to utilise clinical genomic data for research.

Alongside research, Reuben is heavily involved in education within the Faculty of Medicine, particularly within the MSc Genomics,and teaching on all BM programmes.


PGCert Academic Practice, University of Southampton (2018)
PhD Human Genetics, University of Southampton (2015)
MBiol (hons) Molecular and Cellular Biology, University of Bath (2012)

Appointments held

Principal Teaching Fellow, Faculty of Medicine (2022—present)
Lecturer in Computational Genetics
, Faculty of Medicine (2017—2022)
Honorary NHS Contract, University Hospital Southampton NHS Foundation Trust (2015—present)
Research Fellow, Faculty of Medicine (2015—2017)

ORCID iD iconORCID iD: 0000-0001-7022-645X

Research interests

Dr Pengelly has a broad range of research interests, outlined below.


Investigate the mutational profiles and driver mutations of cancers, including pseudomyxoma peritonei, skin lesions, breast and blood cancers. Currently undertaking a large study on rare peritoneal malignancies, collaborating with Prof. Norman Carr and colleagues at the Peritoneal Malignancy Institute, Basingstoke.

Linkage Disequilibrium

LD provides information on the history of a DNA segment, including recombination and selection in collaboration with Prof. Andy Collins. We investigate these patterns with a view to progress human disease gene identification, as well as for agricultural genetics. Visiting Researcher at the University of Sydney, hosted by Dr Mehar Khatkar, to pursue collaborative work in this area.

Molecular Dynamics

Developing approaches for the applications of structural biological simulations to aid interpretation of variants of uncertain significance. 

Rare Disease

Through local and international collaborations, Dr Pengelly investigates the genetic causes of rare disease applying genomic techniques, including cleft lip/palate (with Prof. Ignacio Briceño, University of La Sabana), primary immunodeficiencies (with Prof. Tony Williams), ophthalmological disorders (with Prof. Andrew Lotery and Mr Jay Self), primary ciliary dyskinesia (with Prof. Jane Lucas) and intellectual disability (with Prof. Diana Baralle). Work alongside local clinicians and laboratory partners in order to develop and assess tools for diagnostic utility and improvement of clinical genomic practice.

Research group

Human Development and Health

PhD supervision

Suly Suray Villa Vasquez (Ongoing) - "The role of ALMS1 in the retina and its contribution to inherited retinal dystrophies"
Clare Horscroft (2021) - "Development and application of powerful methods for identifying selective sweeps in human and chicken genomes"
Alejandra Vergara Lope (2021) - "Mathematical tools for analysis of genome function, linkage disequilibrium structure and disease gene prediction"

Faculty roles

Faculty Deputy Director of Graduate School
Faculty Academic Integrity Officer
Doctoral Programme Lead (HDH)
Fitness to Practice investigator
Academic Appeal Reviewer

External roles

External Examiner, MSc Genomic Medicine, University of Sheffield
Editor, European Journal of Human Genetics
Grant reviewer for UKRI and charity grants
Peer reviewer for >15 journals

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Facilitate tutorials and lecture in genetics and biochemistry on BM4, BM5 & BM6 programmes.
Supervisor for undergraduate research project students on BM5 and MMedSci programmes.

MSc Genomics

Programme Lead
Module co-lead - Principles of Genetics & Genomics (MEDI6240)
Module co-lead - Interpretation of Genomics in Clinical Practice (MEDI6239)
Lecturer on several further modules across programme
Supervisor to MSc research projects

Dr Reuben J Pengelly
Faculty of Medicine,
Rm DB04, Duthie Building (MP808),
Southampton General Hospital,
SO16 6YD

Room Number : SGH/DB04/MP808

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