Research Seminar: Implementation and Data Enhancement

This month the research seminar will feature talks from members of the Implementation and Data Enhancement Community exploring how genomics can be effectively translated into NHS clinical practice, and how data-driven innovation is accelerating impact across research. This month's talks from the Implementation and Data Enhancement community are listed below.

About the talks:

• Testing the utility of splice prediction tools to identify putatively pathogenic variants in the National Genomics Research Library

> Describing two recent projects in which splice prediction tools were used to identify potentially pathogenic splice-altering variants within the National Genomics Research Library data

> Introducing ABSplice2, a tool to assist in the identification of biologically relevant splice-altering variants in developmental contexts

> Describing recent work testing and augmenting SpliceAI’s precomputed scores to ensure their continued utility

Alexandra Martin-Geary, Postdoctoral Bioinformatician, The University of Oxford

• Conducting health economics research using Genomics England datasets

James Buchanan, Senior Lecturer in Health Economics, Queen Mary University of London

• Addressing phenotypic variability -insights and opportunities from Genomics England datasets

Claire L Shovlin, Professor of Practice (Clinical and Molecular Medicine), Imperial College London

• Opportunities for multiomic research

Amy Jayne (AJ) McKnight, Professor of Molecular Epidemiology and Public Health, Queen's University Belfast

About the speakers:

Alexandra Martin-Geary, Postdoctoral Bioinformatician, University of Oxford

Alex is a postdoctoral bioinformatician in the Computational Rare Disease Genomics group (CRDG) at the University of Oxford, supervised by Nicky Whiffin. Her research focuses on the use of computational methods and evolutionary data to better understand an individual’s susceptibility to genetic disease. Alex’s work in the CRDG focuses on the identification of pathogenic variants in coding-proximal regions, with a particular interest in those involved in regulatory processes.

James Buchanan, Senior Lecturer in Health Economics, Queen Mary University of London

Dr James Buchanan is a Senior Lecturer in Health Economics at Queen Mary University of London. At QMUL he leads on work on the health economic aspects of precision diagnosis and treatment and translation research, across the Barts Biomedical Research Centre. His research focuses on applying economic methods to quantify the value of precision medicine for stakeholders in the health system. He has a particular interest in understanding the costs and benefits of genome sequencing in people with cancer and rare diseases, and in newborns. He has undertaken and published economic evaluations, outcomes studies, microcosting analyses, and discrete choice experiments in this space, working alongside national population sequencing initiatives such as the Genomics England 100,000 Genomes Project and the Generation Study.

Claire L Shovlin, Professor of Practice (Clinical and Molecular Medicine), Imperial College London

Claire L. Shovlin, BA (Cantab), MA, MB BChir, MRCP, FRCP PAoP is Professor of Practice (Clinical and Molecular Medicine) at Imperial College London, co-Leads the NIHR Imperial Biomedical Research Centre’s Social, Genetic and Environmental Determinants of Health theme, and is a clinically active NHS mainstream physician. For 3 decades, her research has focussed on insights from monogenic diseases to identify and define processes that better predict phenotypic variability, in order to improve health. Longstanding foci on rare coding DNA variants have led to the definition of 3 types of DNA elements that operate differently in response to cellular stresses, providing novel mechanisms for gene-environment interactions, with therapeutic opportunities.  For further details, please see https://www.imperial.ac.uk/people/c.shovlin.

Amy Jayne (AJ) McKnight, Professor of Molecular Epidemiology and Public Health, Queen's University Belfast

AJ’s research is focused on molecular factors that influence human disease and promote healthy ageing. She has participated, led, or helped lead the robust discovery of hundreds of loci for rare diseases and complex polygenic traits, identifying novel risk factors, biological networks, and helping develop powerful approaches to integrative data analysis. AJ coordinates multiple bioresources with associated phenotypic data and is co-lead for the LifeArc Centre for Acceleration of Rare Disease Trials. AJ is passionate about translating high quality research from academia, industry, and NHS collaborations into tangible benefits. Her team regularly conducts outreach activities that promote increased public understanding of science-medicine.

About the research seminars:

The Genomics England Research Seminar series is a season of events held to demonstrate the best research from Genomics England and our partners. They started in October 2018, and are monthly, free-to-attend talks presented by Research Network members on the latest research being performed using data from the National Genomic Research Library.

The seminars will be held on the last Tuesday of each month at 2 to 3pm. These will be online sessions open to everyone and free to attend, we hope to have representation from across the Research Network and 100,000 Genomes Project participants as well as anyone else who would be interested in joining.

For updates on the seminars including announcements and speakers please follow the Genomics England twitter page. You can watch all previous Research Seminars on the Genomics England YouTube channel.

If you would like to present your research from the Genomics England Research Environment at one of these events please get in touch with the Research Management team at [email protected] and if you intend to publish on this research please include this so that we can publicise your paper on our Publications page.