Oetting, William S3; Robinson, Peter N3; Greenblatt, Marc S3; Cotton, Richard G3; Beck, Tim3; Carey, John C3; Doelken, Sandra C3; Girdea, Marta3; Groza, Tudor3; Hamilton, Carol M3; Hamosh, Ada3; Kerner, Berit3; Macarthur, Jacqueline A L3; Maglott, Donna R3; Mons, Barend3; Rehm, Heidi L3; Schofield, Paul N3; Searle, Beverly A3; Smedley, Damian3; Smith, Cynthia L3; Bernstein, Inge Thomsen4; Zankl, Andreas3; Zhao, Eric Y3
1 Section of Surgery and Internal Medicine, Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet2 Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet3 unknown4 Section of Surgery and Internal Medicine, Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet
The 2012 Forum of the Human Variome Project
A forum of the Human Variome Project (HVP) was held as a satellite to the 2012 Annual Meeting of the American Society of Human Genetics in San Francisco, California. The theme of this meeting was "Getting Ready for the Human Phenome Project". Understanding the genetic contribution to both rare single gene "Mendelian" disorders and to more complex common diseases will require integration of research efforts among many fields and better defined phenotypes. The HVP is dedicated to bringing together researchers and research populations throughout the world to provide the resources to investigate the impact of genetic variation on disease. To this end, there needs to be a greater sharing of phenotype and genotype data. For this to occur, the many databases that currently exist will need to become interoperable to allow for the combining of cohorts with similar phenotypes to increase statistical power for studies attempting to identify novel disease genes or causative genetic variants. Improved systems and tools that enhance the collection of phenotype data from clinicians are urgently needed. This meeting begins the HVP's effort towards this important goal.