Interpreting rare variation in the context of developmental disorders
Kaitlin Samocha is an Assistant Professor in the Centre for Genomic Medicine at Massachusetts General Hospital. She is on the steering committee for the Genome Aggregation Database (gnomAD), one of the world’s largest publicly available collections of human genetic variation data, and is part of the Translational Genomics Institute at the Broad Institute of MIT and Harvard. Throughout her research career, Kaitlin has focussed on developing methods and statistical tools to improve interpretation of genetic variation, particularly rare variation. She is well-known for her work on ‘genetic constraint’, where mutational models are used to assess gene’s tolerance to variation, and the use of mutational models to predict the expected number of newly arising (de novo) variants. Both methods have been widely adopted, resulting in the discovery of dozens of new disease genes across conditions including autism spectrum disorders, congenital heart disease, developmental disorders, and schizophrenia. Kaitlin received her degree in Biological Sciences from the University of Chicago, and her Ph.D. in Genetics and Genomics from Harvard University. She worked as a postdoctoral fellow at the Wellcome Sanger Institute and was a College Research Associate at St. John’s College, Cambridge.
Date: 31 January 2023, 9:30 (Tuesday, 3rd week, Hilary 2023)
Venue: Big Data Institute, Old Road Campus OX3 7LF
Venue Details: Seminar Room 0
Speaker: Kaitlin Samocha (Massachusetts General Hospital)
Organising department: Big Data Institute (NDM)
Organisers: Nicky Whiffin (University of Oxford), Duncan Palmer (University of Oxford)
Part of: BDI/WHG Genomics Seminar Series
Booking required?: Not required
Audience: Members of the University only
Editor: Graham Bagley