The March seminar was hosted by Tim Hubbard and our invited speakers included Dr Serena Nik-Zainal presenting on New insights on mutational signatures from the UK 100,000 Genomes Project cancer data and Dr Alistair Pagnamenta and Dr Marcello Niceta jointly presenting on SCUBE3 loss-of-function causes a novel developmental disorder.
Serena Nik-Zainal presented her talk titled “New insights on mutational signatures from the UK 100,000 Genomes Project cancer data“. This was an analysis of breast cancer genomes in the 100,000 Genomes Project dataset as well as diseases related to how DNA damage is repaired. Serena’s work is on has is being published in Nature Cancer soon and her previous work on breast cancer and how mutations in DNA repair genes lead to cancer is available here.
Alistair and Marcello presented together to present SCUBE3 loss-of-function causes a novel developmental disorder using the 100,000 Genomes Project data including a case study of an affected family. Their research also shows similar signatures in mice. Alistair outlined his analysis strategy and how he identified candidate genes from the rare disease arm of the 100,000 Genomes Project. Marcello the described the clinical comparison and phenotypic range he had observed and the functional studies wit plans for his ongoing work. You can read more about their project here.
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. Sign up now to attend for free at: bit.ly/GELseminars2021. 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.