Clinical genetics & human genome variation: The 2008 human genome variation society scientific meeting

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The annual scientific meeting of the Human Genome Variation Society (HGVS) was held on 11 November 2008, in Philadelphia, PA. The major theme of this meeting was ''Clinical Genetics & Human Genome Variation.'' For complex diseases, it is becoming evident that the contribution of most associated genetic variants to the disease process is small and, most likely, multiple variants are required to explain the predisposition and variation that is observed. As genome-wide association studies (GWASs) identify variants that are associated with a disease, there is a need to determine if the associated variants are causative, or simply in genetic disequilibrium with the true functional variant. New methods are being devised to help classify these genetic variants as either functional or nonfunctional. As study populations increase in size, there is also a need for better-constructed databases that can bring together the different genetic variants being identified, including SNPs, copy number variants (CNVs), and methylation differences, environmental risk factors, and the clinical information needed to construct useful phenotypes. These topics and others were discussed in this year's meeting.

Original languageEnglish (US)
Pages (from-to)852-856
Number of pages5
JournalHuman mutation
Issue number5
StatePublished - May 2009


  • Databases
  • Genetic variation
  • HGVS
  • Meeting report


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