Research Seminar: Daniel Greene, Prima Sanjaya and Esa Pitkänen

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.

This month's seminar speakers will be:

Daniel Greene: 'Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy'

Daniel Greene completed a PhD in Biostatistics at the University of Cambridge, continuing as a Postdoctoral Fellow and making contributions to the main paper describing the NIHR BioResource--Rare Diseases study (a pilot for the 100KGP). He is now an Assistant Professor at the Mount Sinai School of Medicine in New York where he continues to conduct research focused on computational approaches to analysing high-throughput sequencing data in rare disease studies.

Prima Sanjaya and Esa Pitkänen: 'Mutation-Attention 2: joint tumour type and subtype classification using deep learning on somatic variants of 14,527 tumour whole genomes'

Prima Sanjaya is a doctoral researcher in the Machine Learning in Biomedicine research group, led by Esa Pitkänen at the Institute for Molecular Medicine Finland (FIMM). Sanjaya earned his Master’s degree in computer science at Dongseo University in Busan and spent three years after that as an AI researcher in the Department of Radiology at Seoul National University Hospital, South Korea, before joining Pitkänen’s lab at FIMM. His doctoral research focuses on developing interpretable deep learning models in genomics for cancer diagnosis and subtyping. His expertise includes deep learning, bioinformatics, and healthcare data science, specialising in cancer genome sequencing analysis.

Esa Pitkänen, PhD, is a FIMM-EMBL Group Leader at the Institute for Molecular Medicine Finland (FIMM), University of Helsinki. Dr. Pitkänen is also a principal investigator in the Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki. Dr. Pitkänen’s research group Machine Learning in Biomedicine (mlbiomed.net) develops novel machine learning and computational methods for biomedicine. The group focuses on deep learning with emphasis on integrative and scalable multimodal techniques for large-scale biomedical data. Specific application areas are cancer genetics and genomics, mutational processes in cancer, and haematological malignancies. Dr. Pitkänen is leading data science efforts in the iCAN Digital Precision Cancer Medicine Flagship, which aims at generating and integrating molecular profiling, clinical and health registry data of 10,000 cancer cases.

About the research seminars

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, 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 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.