Research Seminar: Population Genomics

This month the research seminar will feature talks from members of the Population Genomics Community. This month's talks are listed below.

About the talks:

Non-coding germline variants associated with mutational signatures of DNA mismatch repair deficiency

• A large-scale analysis of approximately 16,000 tumour genomes reveals that common germline variants can significantly influence somatic mutational patterns, particularly by driving DNA mismatch repair deficiencies in colorectal cancer
• A focus on the novelty of using mutational signatures as a GWAS phenotype, and of germline association to DNA repair deficiencies
• Discussing how common, inherited genetic variation actively shapes how tumours mutate and develop by influencing DNA repair mechanisms, suggesting that an individual's baseline genetics may play a direct role in determining their specific cancer profile

-Miguel Martín Álvarez, Postdoc in Supek Lab, IRB Barcelona

Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and Nanopore sequencing.

• Structural variant identification in unsolved foveal hypoplasia cohorts
• Gene specific analysis and variant characterisation in large datasets
• Implications of founder variants in medical diagnostics

-Mohammed Derar, Clinical Genomics Specialist, Leeds Teaching Hospitals NHS Trust

About the speakers:

Miguel Martín Álvarez, Postdoc in Supek Lab, IRB Barcelona

• 2007-2012    BSc on Biology from University of Oviedo (Spain)
• 2012-2013    MSc on Biological Anthropology from the University of Barcelona (Spain)
• 2015-2019    PhD on Human Population Genetics from the University of Barcelona (Spain)
• 2019-Ongoing    Postdoc on Cancer Genomics in Supek Lab at IRB Barcelona

Mohammed Derar, Clinical Genomics Specialist, Leeds Teaching Hospitals NHS Trust

Dr Mohammed Derar is a research scientist with expertise in next generation sequencing and the translation of genomic discoveries into the clinical setting. His research area focuses primarily on the identification and characterisation of genomic variants to understand their consequences in health and to provide additional value for diagnostic, prognostic and therapeutic purposes. His research endeavours encompass rare disease such as inherited retinal disease and more recently, haematological cancers.

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.