Impact of next generation sequencing: The 2009 human genome variation society scientific meeting

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Abstract

The annual scientific meeting of the Human Genome Variation Society (HGVS) was held on the 20th of October, 2009, in Honolulu, Hawaii. The theme of this meeting was the "Impact of Next Generation Sequencing." Presenters spoke on issues ranging from advances in the technology of large-scale genome sequencing to how this information can be analyzed to uncover genetic variants associated with disease. Many of the challenges resulting from the implementation of these new technologies were presented, but possible solutions, or at least paths to the solutions, were also given. With the combined efforts of investigators using next-generation sequencing to help understand the impact of genetic variants on disease, the use of the personal genome in medicine will soon become a reality.

Original languageEnglish (US)
Pages (from-to)500-503
Number of pages4
JournalHuman mutation
Volume31
Issue number4
DOIs
StatePublished - Apr 1 2010

Keywords

  • Databases
  • HGVS
  • Meeting report
  • Mutations
  • Next generation sequencing
  • Variation

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