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Research Seminar: Dr Sunayna Best and Dr Melanie Chan

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Dr Sunayna Best presented on ‘Molecular diagnoses in the Congenital Malformations caused by Ciliopathies Cohort of the 100,000 Genomes Project‘. Ciliopathies refer to a wide range of diseases caused by mutations of cellular cilia. Sunayna describes the different diagnostic workflows she employed to increase the diagnostic yield for these conditions, and showed the benefit of using Whole Genome Sequencing over other methods.

Secondly Dr Melanie Chan will be presenting on ‘Large-scale whole-genome sequencing reveals genetic architecture of posterior urethral valves and implicates two novel genetic loci‘. In this talk, Dr Chan identified two genetic variants with implications for malformation in the urinary tract. The results indicated that these mutations were only identifiable through analysis of hue data sets of whole genome data and would not have been detected by other methods.

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 evenings of talks presented by GECIP members on the latest research being performed on the 100,000 Genomes Project data from our academic community (GECIP), commercial partners (Discovery Forum), COVID analysis and Genomics England research on other cohorts.

The seminars will be held on the last Tuesday of each month at 2-3:30pm. These will be online sessions open to everyone and free to attend, we hope to have representation from across the GECIP, Discovery Forum 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 GECIP team Twitter. 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 GECIP 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.

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