Taylor group: Translational Genomics
Translation of genetics research into clinical practice
Research overview
Oxford Biomedical Research Centre – Genomic Medicine Theme
Associate 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
Our team
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Jenny Taylor
Professor
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Yesim Kesim
Postdoctoral Researcher
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
Taylor J. et al, (2019), Genome Medicine, 11
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Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma
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
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
Pagnamenta AT. et al, (2019), Human Molecular Genetics, 28, 3391 - 3405
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A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders.
Cutts A. et al, (2019), Blood, 134, 1190 - 1193
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PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
Bayat A. et al, (2019), Genetics in Medicine, 21, 2216 - 2223
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ChroniSense National Early Warning Score Study (CHESS): a wearable wrist device to measure vital signs in hospitalised patients-protocol and study design.
Van Velthoven MH. et al, (2019), BMJ open, 9
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Correction: Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups
Burns A. et al, (2019), Leukemia, 33, 2342 - 2342
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Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum.
Aoto S. et al, (2019), Stem cell research & therapy, 10
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De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
Haijes HA. et al, (2019), The American Journal of Human Genetics, 105, 283 - 301