The Annual Scientific Meeting of the Human Genome Variation Society (HGVS) was held on 25 October 2005 in Salt Lake City, Utah. There were four sessions covering topics of interest to members of the HGVS, including mutations and phenotypes, gene variation and disease, methodological approaches, and mutation databases. At this year's annual meeting there was an emphasis on the inclusion of phenotypic information into genomic variation databases. The addition of this information will require the coordinated effort of many individuals from a variety of organizations to ensure that databases will be searchable and meaningful in this effort to combine genomic information, functional data associated with variation, epidemiological data (including environmental exposure), and phenotypic information (especially phenotypes associated with disease). The human genome era is moving into a new phase, and these talks are representative of the new directions in which the study of human DNA variation is going in this exciting area of research.
- Mutation detection