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Translation of genetics research into clinical practice

Research overview

Oxford Biomedical Research Centre – Genomic Medicine Theme

Jenny Taylor

Professor Jenny Taylor is Co-Theme Leader of the Genomic Medicine Theme of the Oxford Biomedical Research Centre (BRC), one of several such centres in the UK funded by the National Institute of Health Research with the overarching aim of translating advances in biomedical research into NHS practice.

The aims of the Genomic Medicine Theme are to:

  • apply next-generation sequencing technologies (NGS) to the discovery of novel disease genes
  • evaluate and develop these technologies for rapid translation into the clinic, resulting in new NHS-based genetics services
  • provide genetics and genomics infrastructure (platforms and expertise) to support other translational research projects

Our research is truly multi-disciplinary, integrating researchers and clinicians (particularly those based at the Centre) from a range of medical specialities, with clinical scientists from the diagnostic laboratories, and others, including specialists in health economics, informatics, and ethics.

The activities of the Genomic Medicine Theme are divided into three sub-themes, each with a specific programme of collaborative projects.  Members of the Taylor group are involved across all three sub-themes, either running projects of their own or as collaborators in wider programmes.

Clinical applications of sequencing

Mechanisms to biomarkers

Technology translation

Our team

Selected publications

A Network Approach to Developmental Differences and Disorders.

Journal article

Deniz E. et al, (2026), Dev Sci, 29

Cryptic CBFB Deletion–Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia

Journal article

Pagnamenta AT. et al, (2025), Clinical Genetics, 108, 86 - 91

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency

Journal article

Blanco E. et al, (2025), Journal of Experimental Medicine, 222

Latest publications

CleanCTG: A deep learning model for multi-artefact detection and reconstruction in Cardiotocography

Journal article

Wong S. et al, (2026), Biomedical Signal Processing and Control, 123, 110654 - 110654

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders

Journal article

De Jonghe J. et al, (2026), Nature, 654, 429 - 436

The cost and cost-effectiveness of whole-exome and whole-genome sequencing: a systematic literature review

Journal article

McElwee F. et al, (2026), European Journal of Human Genetics

Genetic role in autoimmune encephalitis and paraneoplastic neurological syndromes.

Journal article

Binks SNM. et al, (2026), Current opinion in neurology, 39, 341 - 350

Nucleophagy removes cytotoxic trapped PARP1.

Journal article

Hoslett G. et al, (2026), Nature cell biology

Related research themes