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:

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

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

About the speakers:

Alexandra Martin-Geary

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.

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.