Kaitlin Samocha is an assistant professor at Massachusetts General Hospital and an associated scientist at the Broad Institute of MIT and Harvard. She is on the steering committee for the Genome Aggregation Database, one of the world’s largest publicly available collections of human genetic variation data. The focus of her research career has been on developing methods and statistical tools to improve interpretation of genetic variation, particularly rare variation.

Samocha created a mutational model to predict the expected number of newly arising (de novo) variants that has been leveraged to associate dozens of genes with autism, congenital heart disease and schizophrenia, among others. As a way to aid variant interpretation, she also developed metrics to measure a gene’s tolerance to mutational changes, including the pLI score that was used to identify thousands of genes intolerant to loss of a single functional copy. Additionally, she led an international consortium studying developmental disorders and identified approximately 300 significantly associated genes, including 28 that had not been robustly tied to these disorders. Her team’s goals are to continue to develop tools and scores to increase diagnostic yield for rare disease patients and to improve our ability to interpret the impact of rare variation.