Mind the dbGAP: The Application of Data Mining to Identify Biological Mechanisms

摘要

Scientists have discovered basic mechanisms of mammalian development and disease through studying diverse animal models and human Mendelian disorders. The recently constructed database of Genotypes and Phenotypes (dbGAP) has made available to the scientific community extensive human genetic data from large, well-characterized phenotypes. Here we discuss how, in our view, the availability of dbGAP data has changed the traditional scientific approach to the identification of the genetic contributors to human disease and traits. Further, dbGAP has created new opportunities to discover genes important for mammalian development and disease traits through the targeted analysis of coding variants and the application of pathway-based approaches.