The age of personal genomics has now fully arrived, and along with it, the human genetics and genomics research community is now poised to systematically describe the genetic bases of human diseases. Nevertheless, significant challenges remain, from data integration and analysis through biological interpretation and clinical application. This Gordon Conference will bring together international leaders in the field of human genetics and genomics to discuss what has been learned and where the field is heading. Speakers will focus on advances in studying the organization and function of our genome including non coding regions, new insights into human genetic diversity, and a number of case studies of sequencing approaches applied to both rare and common diseases. A particular focus of the meeting will be the development of appropriate frameworks for the interpretation of whole-genome sequence data and for elucidating the biological effects of pathogenic variants. The conference should be of interest to researchers and students in the fields of human and medical genetics as well as those interested in genome biology in the post-genomic era. It will also provide a venue for rapid exposure to the "state of the art" for investigators contemplating studies, or the utilization of tools, in this field.