Taylor group: Translational Genomics
Translation of genetics research into clinical practice
Research overview
Oxford Biomedical Research Centre – Genomic Medicine Theme

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
Latest publications
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Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series
Journal article
Taylor J. et al, (2019), Genome Medicine, 11
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Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma
Journal article
Winter H. et al, (2019), Cancers, 11, 1895 - 1895
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Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease
Journal article
Buchanan J. et al, (2019), European Journal of Human Genetics, 27, 1639 - 1648
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Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice
Journal article
Pagnamenta AT. et al, (2019), Human Molecular Genetics, 28, 3391 - 3405
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PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
Journal article
Bayat A. et al, (2019), Genetics in Medicine, 21, 2216 - 2223
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Conserved properties of genetic architecture of renal and fat transcriptomes in rat models of insulin resistance.
Journal article
Otto GW. et al, (2019), Disease models & mechanisms, 12
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Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome
Journal article
Pagnamenta AT. et al, (2019), Clinical Genetics, 95, 693 - 703
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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Journal article
O’Donnell-Luria AH. et al, (2019), The American Journal of Human Genetics, 104, 1210 - 1222
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Germline selection shapes human mitochondrial DNA diversity
Journal article
Wei W. et al, (2019), Science, 364
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Germline selection shapes human mitochondrial DNA diversity.
Journal article
Wei W. et al, (2019), Science (New York, N.Y.), 364