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Dr Reuben J Pengelly PhD, FHEA

Lecturer in Computational Genetics

Dr Reuben J Pengelly's photo

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

Dr Pengelly was appointed Lecturer in Computational Genetics within the Faculty of Medicine 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 with the Wessex Clinical Exome Pilot (WCEP), providing bioinformatic support for NHS service development, and working to utilise clinical genomic data for research.


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

Appointments held

Lecturer in Computational Genetics, Human Development & Health, 2017 - present
Honorary Contract Holder, University Hospital Southampton NHS Foundation Trust, 2015 - present
Research Fellow, Human Genetics & Genomic Medicine, 2015 - 2017
Postgraduate Researcher, Human Development & Health, 2012 - 2015


Research interests

Linkage Disequilibrium

LD provides information on the history of a DNA segment, including recombination and selection. We investigate these patterns and the associated methods in our toolbox in order to allow us to best ascertain the information held. We undertake this with view to human disease gene identification, as well as for agricultural genetics. 

Rare Disease

Through local and international collaborations, Dr Pengelly investigates the genetic causes of rare disease applying genomic techniques, including cleft lip/palate, primary immunodeficiencies, ophthalmological disorders, primary ciliary dyskinesia and intellectual disability. 


Collaboratively investigate the mutational profiles of cancers, including pseudomyxoma peritonei, skin lesions, breast and blood cancers.

Clinical Genomics

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

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MSc Genomic Medicine

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


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


Academic Integrity Officer for the Faculty of Medicine.

Dr Reuben J Pengelly
Human Genetics & Genomic Medicine,
Duthie Building (MP808),
Southampton General Hospital,
Tremona Road,
SO16 6YD

Room Number: SGH/DB04/MP808

Facsimile: (023) 8120 4264

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