Interpreting rare variation in the context of developmental disorders
Kaitlin Samocha, Massachusetts General Hospital
Tuesday, 31 January 2023, 9.30am to 10.30am
Seminar room 0, BDI/OxPop Building, Old Road Campus, Headington, Oxford, OX3 7LF
BDI/WHG (gen)omics Seminar Series
Kaitlin Samocha is an Assistant Professor in the Centre for Gnomic 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.