The University of Southampton
Genomic InformaticsGroup members
Phone:
(023) 8120 4424
Email:
R.J.Pengelly@soton.ac.uk

Dr Reuben J Pengelly PhD, FHEA

Lecturer in Genomics

Dr Reuben J Pengelly's photo
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Dr Reuben Pengelly is a researcher specialising in Medical Genomics within Medicine at the University of Southampton.

Dr Pengelly was appointed Research Fellow within the Faculty of Medicine in 2015. A graduate of the University of Bath, he joined the Genomic Informatics Group 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 and Andrew Collins, and Dr Jane Gibson.

Dr Pengelly now works mainly with the Wessex Clinical Exome Pilot (WCEP), providing bioinformatic support for this project. The WCEP is a partnership between the University of Southampton, University Hospital Southampton NHS Foundation Trust and Salisbury NHS Foundation Trust, aiming to evaluate the potential of in-house NGS diagnostics for improving patient outcomes. He continues to work on other varied projects.

Qualifications

PhD Human Development & Health, University of Southampton (2015)

MBiol (hons) Molecular and Cellular Biology, University of Bath (2012)

Appointments held

Lecturer in Genomics, Human Development & Health, University of Southampton, 2017 - present

Honorary Contract Holder, University Hospital Southampton NHS Foundation Trust, 2015 - present

Research Fellow, Medical Genomics, University of Southampton, 2015 - 2017

Postgraduate Researcher, Human Development & Health, University of Southampton, 2012 - 2015

 

Research

Responsibilities

Publications

Teaching

Contact

Research interests

Current research interests include:

  • Development and validation of clinical-grade NGS pipelines.
  • Utility of phenotype ontologies for streamlining molecular diagnostics.
  • Patterns of linkage disequilibrium and the factors underlying these, in multiple species.
  • Genetics of cleft lip/palate syndromes in Colombia.
  • Identification of aetiological mutations in rare disease in collaboration with local clinicians.

Research group

Human Development and Health Academic Units

Research project(s)

Linkage disequilibrium

Coordinate departmental seminar series.

Co-organise annual next-generation sequencing conference.

STEM ambasador and deliver outreach activities to local schools and at the LifeLab facility at the hospital.

Current supervisor to PhD students.

Articles

Module co-lead for 'Genomics of Common & Rare Disease' MSc module (MEDI6125).

Lecturer on several modules across MSc Genomics Medicine programme.

Faciltitate tutorials in genetics and biochemistry on BM5 programme.

Supervise undergraduate research project students on BM5 and MMedSci programmes.

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

Room Number:SGH/Duthie/MP808

Telephone:(023) 8120 4424
Facsimile:(023) 8120 4264
Email:R.J.Pengelly@soton.ac.uk

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