Exploring the functional consequences of genomic variation: The 2010 Human Genome Variation Society Scientific Meeting

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Abstract

The 2010 annual scientific meeting of the Human Genome Variation Society (HGVS) was held on November 2 in Washington, DC. The theme of this year's meeting was "Exploring the Functional Consequences of Genomic Variation." Next generation sequencing technologies now allow investigators to sequence entire genomes of multiple individuals. Each genome contains over 3 million variants in which the functional (or causative) variants need to be identified. Limiting sequencing analysis to only the exome (approximately 1% of the genome) can still result in over 30,000 possible variants per individual that need to be analyzed for their effect on function. Analysis of this massive amount of data will require a combination of computer assisted algorithms and biological studies to identify the causative variants. The 2010 annual meeting of the HGVS focused on methods being designed for this purpose.

Original languageEnglish (US)
Pages (from-to)486-490
Number of pages5
JournalHuman mutation
Volume32
Issue number4
DOIs
StatePublished - Apr 2011

Keywords

  • Databases
  • Functionality
  • HGVS
  • Meeting report
  • Prediction
  • Variation

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