Skip to main navigationSkip to main content
The University of Southampton
Genomic InformaticsGroup members
(023) 8120 5029

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

Lecturer in Computational Genetics

Dr Reuben J Pengelly's photo
Related links
MSc Genomic Medicine

Dr Reuben Pengelly is Lecturer in Computational Genetics within the Faculty of Medicine at the University of Southampton.

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

Dr Pengelly 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, he 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, Dr Pengelly 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, Dr Pengelly is heavily involved in education within the Faculty of Medicine, as particularly within the MSc Genomic Medicine, as well as 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

Lecturer in Computational Genetics, Faculty of Medicine (2017—present)
Honorary Contract Holder, 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


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

Current PhD supervision

Alejandra Vergara Lope - "Developing Mathematical Tools to Identify the Genes Underlying Diseases"
Clare Horscroft - "Development and application of powerful methods for identifying selective sweeps in human and chicken genomes"

Faculty roles

Lead Academic Integrity Officer
Academic Appeal Reviewer

External roles

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

Sort via:TypeorYear






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

MSc Genomic Medicine

Assessment Lead and Deputy Programme Lead
Module lead for Genomics of Common & Rare Inherited Disease (MEDI6125) module
Lecturer on several further modules across programme
Supervisor to MSc research projects

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

Room Number: SGH/DB04/MP808

Facsimile: (023) 8120 4264

Share this profile Share this on Facebook Share this on Twitter Share this on Weibo
Privacy Settings