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The University of Southampton
Medicine
Phone:
(023) 8120 5029
Email:
R.J.Pengelly@soton.ac.uk

Dr Reuben J Pengelly PhD, FHEA

Lecturer in Computational Genetics

Dr Reuben J Pengelly's photo
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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.

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 with the Wessex Clinical Exome Pilot (WCEP), 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 Deputy Programme/Assessment Lead for the MSc Genomic Medicine, as well as teaching on undergraduate medicine programmes.

Qualifications

PhD Human Genetics, University of Southampton (2015)
PGCert Academic Practice, University of Southampton (2018)
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

 

Cancer

Investigate the mutational profiles and driver mutations of cancers, including pseudomyxoma peritonei, skin lesions, breast and blood cancers.

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. Visiting Researcher at the University of Sydney 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, primary immunodeficiencies, ophthalmological disorders, primary ciliary dyskinesia and intellectual disability. Work alongside local clinicians and laboratory partners in order to develop and assess tools for diagnostic utility and improvement of clinical genomic practice.

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 for Faculty of Medicine
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

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Articles

Conferences

Letter/Editorial

MSc Genomic Medicine

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

Undergraduate

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

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

Room Number: SGH/DB04/MP808

Facsimile: (023) 8120 4264

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