AlphaMissense predictions for human genetic variation research скачать в хорошем качестве

AlphaMissense predictions for human genetic variation research

This webinar will explore AlphaMissense, a model based on AlphaFold. AlphaMissense is designed to analyse missense variants, which are individual amino acid changes in proteins. Classifying these variants is crucial for understanding which ones might contribute to disease development. Our guest speaker from Google DeepMind will introduce AlphaMissense. You will gain insights into its underlying technology, how it analyses variants, and what the generated scores represent. Importantly, all predictions from AlphaMissense are freely available to the scientific community. The webinar will then showcase how EMBL-EBI resources integrate AlphaMissense data. This includes details on how the data is stored, displayed, and accessed by researchers studying human genetic variations. We will conclude by a question and answer session with all the presenters. Who is this webinar for? This webinar is ideal for researchers, clinicians, geneticists, and anyone interested in the latest advancements in human genetics, variant interpretation and the potential of AI in life science. Outcomes By the end of the webinar you will be able to: Describe the principles behind AlphaMissense and its approach to variant classification Identify how AlphaMissense utilises protein structure and sequence information for variant assessment Explore EBI resources that incorporate AlphaMissense data to explore variant pathogenicity DOI: 10.6019/TOL.AlphaMissense2024-w.2024.00001.1 Presenters Joshua Pan - Google Deepmind Ziga Avsec - Google Deepmind Elisa Wong - Google Deepmind Paulyna Gabriela Magana Gomez - EMBL-EBI Louisse Paola Mirabueno - EMBL-EBI Benjamin Moore - EMBL-EBI Yvonne Lussi - UniProt EMBL-EBI Aurelien Luciani - UniProt EMBL-EBI Sarah Hunt - EMBL-EBI Julia Foreman - EMBL-EBI Recorded on 7th June 2024