Human genetic variation

Understanding the pattern of common genetic variation in the human population is a major focus of the program. First, this involves creating a systematic catalog of the full range of genetic variants (large and small, rare and common) present in the human population, through the analysis of DNA sequencing data from hundreds of thousands of people. Second, it involves understanding how, with such information, it becomes possible to undertake systematic studies of the genetic factors underlying inherited susceptibility to common diseases.