The 2006 Human Genome Variation Society scientific meeting

The annual scientific meeting of the Human Genome Variation Society (HGVS) was held on the 9th of October, 2006, in New Orleans, Louisiana. This year's annual meeting had two main themes, "Tools to Evaluate Pathogenicity" and "The Human Variome Project." The ability to determine if a DNA variant affects the phenotype is important if we wish to understand the genetic contribution to disease. Genetic variants are continually being identified in research and molecular diagnostic laboratories, but functional tests are not always available. Attempts are now being made to create software that will help us determine if a variation will affect either the function of the protein, the expression of the gene, or the stability and processing of the mRNA. For the second theme, there is an interest in creating a database that brings together genetic variation with phenotypic variation in individuals. The Human Variome Project was created to begin this process. Now that the human genome sequence is all but completed, the next phase of the human genome era will be to associate genetic variation with its effect on the phenotype and differing disease states. At this scientific meeting there were also several papers focusing on the identification, classification, and functional effects of variation. These talks are representative of the questions, problems, and solutions that are being considered by researchers involved in the study of variation in the human genome.