Genomic variation in a global village: Report of the 10th Annual Human Genome Variation Meeting 2008

Anthony J. Brookes, Stephen J. Chanock, Thomas J. Hudson, Leena Peltonen, Gonçalo Abecasis, Pui Yan Kwok, Stephen W. Scherer

Research output: Contribution to journalArticlepeer-review

Abstract

The Centre for Applied Genomics of the Hospital for Sick Children and the University of Toronto hosted the 10th Human Genome Variation (HGV) Meeting in Toronto, Canada, in October 2008, welcoming about 240 registrants from 34 countries. During the 3 days of plenary workshops, keynote address, and poster sessions, a strong cross-disciplinary trend was evident, integrating expertise from technology and computation, through biology and medicine, to ethics and law. Single nucleotide polymorphisms (SNPs) as well as the larger copy number variants (CNVs) are recognized by everimproving array and next-generation sequencing technologies, and the data are being incorporated into studies that are increasingly genome-wide as well as global in scope. A greater challenge is to convert data to information, through databases, and to use the information for greater understanding of human variation. In the wake of publications of the first individual genome sequences, an inaugural public forum provided the opportunity to debate whether we are ready for personalized medicine through direct-toconsumer testing. The HGV meetings foster collaboration, and fruits of the interactions from 2008 are anticipated for the 11th annual meeting in September 2009.

Original languageEnglish (US)
Pages (from-to)1134-1138
Number of pages5
JournalHuman mutation
Volume30
Issue number7
DOIs
StatePublished - Jul 2009
Externally publishedYes

Keywords

  • CNV
  • GWAS
  • Personalized medicine
  • SNP

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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